Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:2700049A03Rik'

597635

Institutional Source

Beutler Lab

Gene Symbol

2700049A03Rik

Ensembl Gene

ENSMUSG00000034601

Gene Name

RIKEN cDNA 2700049A03 gene

Synonyms

talpid3

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71136848-71243303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71189413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1179 (M1179I)

Ref Sequence

ENSEMBL: ENSMUSP00000118956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045907] [ENSMUST00000149564]

AlphaFold

E9PV87

Predicted Effect

probably benign
Transcript: ENSMUST00000045907
AA Change: M1179I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000044701
Gene: ENSMUSG00000034601
AA Change: M1179I

Domain	Start	End	E-Value	Type
Pfam:TALPID3	116	1351	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149564
AA Change: M1179I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000118956
Gene: ENSMUSG00000034601
AA Change: M1179I

Domain	Start	End	E-Value	Type
Pfam:TALPID3	116	1349	N/A	PFAM

Meta Mutation Damage Score

0.1243

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227 (GRCm38)	E2850V	unknown	Het
6430550D23Rik	T	C	2: 156,003,431 (GRCm38)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278 (GRCm38)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158 (GRCm38)		probably null	Het
Bche	T	A	3: 73,701,121 (GRCm38)	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740 (GRCm38)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821 (GRCm38)	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434 (GRCm38)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467 (GRCm38)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822 (GRCm38)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272 (GRCm38)	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445 (GRCm38)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456 (GRCm38)	I2043N		Het
Disc1	A	G	8: 125,087,504 (GRCm38)	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910 (GRCm38)	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570 (GRCm38)	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215 (GRCm38)		probably null	Het
Dync1li1	A	G	9: 114,709,277 (GRCm38)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966 (GRCm38)	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719 (GRCm38)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421 (GRCm38)	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503 (GRCm38)		probably null	Het
Ginm1	A	T	10: 7,779,355 (GRCm38)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433 (GRCm38)		probably benign	Het
Gm49368	C	T	7: 128,112,226 (GRCm38)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208 (GRCm38)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344 (GRCm38)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451 (GRCm38)	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915 (GRCm38)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237 (GRCm38)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981 (GRCm38)	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522 (GRCm38)	K637*	probably null	Het
Jak2	T	C	19: 29,283,546 (GRCm38)	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623 (GRCm38)		probably benign	Het
Mill1	T	C	7: 18,262,466 (GRCm38)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm38)		probably null	Het
Mup8	T	A	4: 60,220,333 (GRCm38)	Q133L	probably benign	Het
Mup8	C	A	4: 60,220,332 (GRCm38)	Q133H	probably benign	Het
Mycbp2	A	T	14: 103,191,619 (GRCm38)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450 (GRCm38)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196 (GRCm38)	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898 (GRCm38)	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561 (GRCm38)	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995 (GRCm38)	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989 (GRCm38)	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465 (GRCm38)	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600 (GRCm38)	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921 (GRCm38)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834 (GRCm38)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151 (GRCm38)		probably benign	Het
Pkhd1	A	G	1: 20,562,415 (GRCm38)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376 (GRCm38)	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236 (GRCm38)	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695 (GRCm38)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087 (GRCm38)	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464 (GRCm38)		probably null	Het
Shprh	A	T	10: 11,162,180 (GRCm38)	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973 (GRCm38)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660 (GRCm38)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839 (GRCm38)	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013 (GRCm38)	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165 (GRCm38)	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585 (GRCm38)	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794 (GRCm38)	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943 (GRCm38)		probably null	Het
Stox1	T	C	10: 62,663,964 (GRCm38)	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779 (GRCm38)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858 (GRCm38)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008 (GRCm38)	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490 (GRCm38)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm38)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm38)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,254 (GRCm38)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278 (GRCm38)	G204*	probably null	Het

Other mutations in 2700049A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:2700049A03Rik	APN	12	71,167,119 (GRCm38)	missense	probably benign	0.00
IGL01107:2700049A03Rik	APN	12	71,194,468 (GRCm38)	critical splice donor site	probably null
IGL01404:2700049A03Rik	APN	12	71,164,378 (GRCm38)	splice site	probably null
IGL01835:2700049A03Rik	APN	12	71,167,183 (GRCm38)	missense	probably benign	0.00
IGL01835:2700049A03Rik	APN	12	71,167,181 (GRCm38)	nonsense	probably null
IGL02122:2700049A03Rik	APN	12	71,170,525 (GRCm38)	missense	possibly damaging	0.93
IGL02140:2700049A03Rik	APN	12	71,148,260 (GRCm38)	missense	probably benign	0.06
IGL02385:2700049A03Rik	APN	12	71,154,856 (GRCm38)	missense	probably damaging	0.98
IGL03181:2700049A03Rik	APN	12	71,193,373 (GRCm38)	missense	possibly damaging	0.51
IGL03253:2700049A03Rik	APN	12	71,140,883 (GRCm38)	missense	probably benign	0.33
IGL03278:2700049A03Rik	APN	12	71,158,825 (GRCm38)	splice site	probably benign
G4846:2700049A03Rik	UTSW	12	71,137,909 (GRCm38)	missense	probably benign
PIT1430001:2700049A03Rik	UTSW	12	71,160,386 (GRCm38)	missense	possibly damaging	0.71
PIT4519001:2700049A03Rik	UTSW	12	71,170,666 (GRCm38)	missense	probably benign	0.05
R0108:2700049A03Rik	UTSW	12	71,177,918 (GRCm38)	missense	probably benign	0.14
R0165:2700049A03Rik	UTSW	12	71,167,150 (GRCm38)	missense	possibly damaging	0.52
R0211:2700049A03Rik	UTSW	12	71,216,096 (GRCm38)	missense	possibly damaging	0.96
R0211:2700049A03Rik	UTSW	12	71,216,096 (GRCm38)	missense	possibly damaging	0.96
R0220:2700049A03Rik	UTSW	12	71,148,420 (GRCm38)	critical splice donor site	probably null
R0352:2700049A03Rik	UTSW	12	71,138,030 (GRCm38)	missense	possibly damaging	0.96
R0468:2700049A03Rik	UTSW	12	71,193,310 (GRCm38)	missense	possibly damaging	0.71
R0508:2700049A03Rik	UTSW	12	71,164,388 (GRCm38)	missense	probably damaging	0.98
R0673:2700049A03Rik	UTSW	12	71,177,868 (GRCm38)	missense	probably damaging	0.97
R0840:2700049A03Rik	UTSW	12	71,158,883 (GRCm38)	missense	probably benign	0.16
R0893:2700049A03Rik	UTSW	12	71,219,308 (GRCm38)	splice site	probably benign
R1244:2700049A03Rik	UTSW	12	71,216,144 (GRCm38)	missense	probably benign	0.25
R1432:2700049A03Rik	UTSW	12	71,170,587 (GRCm38)	splice site	probably null
R1599:2700049A03Rik	UTSW	12	71,150,259 (GRCm38)	missense	probably damaging	0.98
R1732:2700049A03Rik	UTSW	12	71,219,221 (GRCm38)	missense	probably benign	0.18
R1820:2700049A03Rik	UTSW	12	71,150,244 (GRCm38)	missense	possibly damaging	0.51
R1939:2700049A03Rik	UTSW	12	71,160,412 (GRCm38)	splice site	probably null
R1998:2700049A03Rik	UTSW	12	71,188,619 (GRCm38)	missense	possibly damaging	0.86
R2337:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2337:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2340:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2340:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2382:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2382:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2384:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2384:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2445:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2445:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2449:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R2449:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R2512:2700049A03Rik	UTSW	12	71,173,171 (GRCm38)	missense	possibly damaging	0.71
R2872:2700049A03Rik	UTSW	12	71,154,756 (GRCm38)	splice site	probably benign
R3236:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3236:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3237:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3237:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3734:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3734:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3808:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3808:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3809:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3809:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3944:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3944:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3959:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3959:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R3960:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R3960:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4593:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4593:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4595:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4595:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4596:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4596:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4600:2700049A03Rik	UTSW	12	71,148,263 (GRCm38)	missense	possibly damaging	0.67
R4649:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4649:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4651:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4651:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4652:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4652:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4714:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4714:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4735:2700049A03Rik	UTSW	12	71,216,123 (GRCm38)	missense	possibly damaging	0.88
R4810:2700049A03Rik	UTSW	12	71,189,442 (GRCm38)	missense	possibly damaging	0.51
R4852:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4852:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4854:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4854:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4855:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4855:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4884:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4884:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4893:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4893:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4905:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4905:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4915:2700049A03Rik	UTSW	12	71,189,646 (GRCm38)	missense	possibly damaging	0.92
R4919:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4919:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4959:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4959:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R4989:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R4989:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5011:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5011:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5012:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5012:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5118:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5118:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5146:2700049A03Rik	UTSW	12	71,243,025 (GRCm38)	missense	possibly damaging	0.85
R5163:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5163:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5188:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5188:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5189:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5189:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5189:2700049A03Rik	UTSW	12	71,193,349 (GRCm38)	missense	possibly damaging	0.93
R5190:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5190:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5290:2700049A03Rik	UTSW	12	71,188,791 (GRCm38)	missense	probably benign	0.00
R5344:2700049A03Rik	UTSW	12	71,243,027 (GRCm38)	missense	probably benign
R5502:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5502:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5503:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5503:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5619:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5619:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5667:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5667:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5669:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5669:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5671:2700049A03Rik	UTSW	12	71,164,546 (GRCm38)	nonsense	probably null
R5671:2700049A03Rik	UTSW	12	71,164,547 (GRCm38)	missense	possibly damaging	0.93
R5725:2700049A03Rik	UTSW	12	71,193,319 (GRCm38)	missense	probably benign	0.05
R5956:2700049A03Rik	UTSW	12	71,157,119 (GRCm38)	missense	possibly damaging	0.86
R6051:2700049A03Rik	UTSW	12	71,184,530 (GRCm38)	missense	possibly damaging	0.84
R6148:2700049A03Rik	UTSW	12	71,187,426 (GRCm38)	missense	possibly damaging	0.71
R6158:2700049A03Rik	UTSW	12	71,170,636 (GRCm38)	missense	possibly damaging	0.51
R6916:2700049A03Rik	UTSW	12	71,164,544 (GRCm38)	missense	possibly damaging	0.86
R7129:2700049A03Rik	UTSW	12	71,216,230 (GRCm38)	splice site	probably null
R7168:2700049A03Rik	UTSW	12	71,216,057 (GRCm38)	missense	probably damaging	0.98
R7193:2700049A03Rik	UTSW	12	71,219,189 (GRCm38)	critical splice acceptor site	probably null
R7200:2700049A03Rik	UTSW	12	71,140,906 (GRCm38)	missense	probably damaging	0.96
R7359:2700049A03Rik	UTSW	12	71,189,574 (GRCm38)	missense	possibly damaging	0.51
R7488:2700049A03Rik	UTSW	12	71,150,405 (GRCm38)	missense	possibly damaging	0.67
R7755:2700049A03Rik	UTSW	12	71,189,413 (GRCm38)	missense	probably benign	0.02
R7922:2700049A03Rik	UTSW	12	71,164,406 (GRCm38)	missense	possibly damaging	0.83
R7966:2700049A03Rik	UTSW	12	71,173,129 (GRCm38)	missense	probably benign	0.00
R8082:2700049A03Rik	UTSW	12	71,142,121 (GRCm38)	critical splice donor site	probably null
R8311:2700049A03Rik	UTSW	12	71,138,041 (GRCm38)	unclassified	probably benign
R8408:2700049A03Rik	UTSW	12	71,189,582 (GRCm38)	missense	possibly damaging	0.71
R8852:2700049A03Rik	UTSW	12	71,184,423 (GRCm38)	missense	possibly damaging	0.93
R8860:2700049A03Rik	UTSW	12	71,184,423 (GRCm38)	missense	possibly damaging	0.93
R9039:2700049A03Rik	UTSW	12	71,167,075 (GRCm38)	missense	possibly damaging	0.51
R9281:2700049A03Rik	UTSW	12	71,158,913 (GRCm38)	missense	possibly damaging	0.51
R9308:2700049A03Rik	UTSW	12	71,184,459 (GRCm38)	missense	probably benign	0.23
R9385:2700049A03Rik	UTSW	12	71,161,192 (GRCm38)	missense	possibly damaging	0.52
R9412:2700049A03Rik	UTSW	12	71,188,683 (GRCm38)	missense	possibly damaging	0.71
R9643:2700049A03Rik	UTSW	12	71,164,415 (GRCm38)	missense	possibly damaging	0.92
R9676:2700049A03Rik	UTSW	12	71,161,131 (GRCm38)	missense	possibly damaging	0.86
R9776:2700049A03Rik	UTSW	12	71,188,674 (GRCm38)	missense	possibly damaging	0.71
R9789:2700049A03Rik	UTSW	12	71,184,583 (GRCm38)	missense	probably benign
Z1177:2700049A03Rik	UTSW	12	71,164,484 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCATCAGATGCTGTGCGC -3'
(R):5'- TTTCAGTGACAGTGCTCAGAGTG -3'

Sequencing Primer
(F):5'- ACCATATTGATTCCTTTTGTGGCTAG -3'
(R):5'- ACAGTGCTCAGAGTGTTCTCCAG -3'

Posted On

2019-11-26