Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:AW554918'

159964

Institutional Source

Beutler Lab

Gene Symbol

AW554918

Ensembl Gene

ENSMUSG00000033632

Gene Name

expressed sequence AW554918

Synonyms

MMRRC Submission

039474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25302056-25600378 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 25472756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400] [ENSMUST00000165400]

AlphaFold

Q6NZK5

Predicted Effect

probably null
Transcript: ENSMUST00000036619

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.4e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000036619

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.4e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097643

SMART Domains

Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	2.5e-154	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100131

SMART Domains

Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	1	211	9.6e-81	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100131

SMART Domains

Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	1	211	9.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159605

Predicted Effect

probably benign
Transcript: ENSMUST00000160530

Predicted Effect

probably null
Transcript: ENSMUST00000165400

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.6e-160	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165400

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.6e-160	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Abtb3	C	A	10: 85,481,442 (GRCm39)	T948K	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Alb	A	G	5: 90,612,061 (GRCm39)		probably benign	Het
Arnt	A	G	3: 95,377,710 (GRCm39)		probably benign	Het
Asap2	A	C	12: 21,289,586 (GRCm39)	N501H	probably damaging	Het
Asap2	A	G	12: 21,289,590 (GRCm39)	E499G	probably damaging	Het
Atp5f1b	C	T	10: 127,919,167 (GRCm39)		probably benign	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Bod1l	G	A	5: 41,976,814 (GRCm39)	T1500I	probably damaging	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dnah17	T	A	11: 117,964,849 (GRCm39)	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,686,395 (GRCm39)		probably benign	Het
Dnajc16	G	T	4: 141,495,052 (GRCm39)	S520*	probably null	Het
Dsg1b	G	T	18: 20,530,487 (GRCm39)	E381*	probably null	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Fat4	T	C	3: 38,944,962 (GRCm39)	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gnas	C	T	2: 174,187,007 (GRCm39)		probably benign	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Hsd17b4	G	T	18: 50,263,254 (GRCm39)		probably benign	Het
Kmt2b	A	G	7: 30,276,385 (GRCm39)		probably benign	Het
Lrch1	T	C	14: 75,041,709 (GRCm39)		probably benign	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mtch2	A	T	2: 90,683,359 (GRCm39)		probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Mug1	C	T	6: 121,815,635 (GRCm39)	S13L	probably benign	Het
Naa25	T	G	5: 121,561,797 (GRCm39)	L450R	probably damaging	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nrp2	C	T	1: 62,822,491 (GRCm39)	R695*	probably null	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or2z9	T	C	8: 72,854,231 (GRCm39)	L209P	probably damaging	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Pclo	A	T	5: 14,728,144 (GRCm39)		probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Pkn3	T	A	2: 29,973,059 (GRCm39)	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plppr2	C	T	9: 21,859,085 (GRCm39)	P401S	possibly damaging	Het
Poln	A	G	5: 34,236,319 (GRCm39)	V604A	probably benign	Het
Pramel21	T	A	4: 143,342,604 (GRCm39)	I237K	probably benign	Het
Prkd2	A	G	7: 16,603,470 (GRCm39)	D800G	probably benign	Het
Ptprb	A	G	10: 116,155,375 (GRCm39)	T710A	probably benign	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Ralbp1	A	T	17: 66,166,143 (GRCm39)		probably benign	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Smcr8	T	C	11: 60,668,858 (GRCm39)	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,292,247 (GRCm39)	T301A	probably damaging	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Szt2	A	T	4: 118,244,976 (GRCm39)	S1187T	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,680 (GRCm39)	M405L	possibly damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,715,313 (GRCm39)	Q341K	probably benign	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Utrn	C	T	10: 12,589,094 (GRCm39)	V871I	probably benign	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Vmn1r205	T	C	13: 22,777,049 (GRCm39)	K18E	probably benign	Het
Zfp518a	T	A	19: 40,902,803 (GRCm39)	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,374,590 (GRCm39)	C475R	probably damaging	Het

Other mutations in AW554918

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:AW554918	APN	18	25,553,122 (GRCm39)	nonsense	probably null
IGL01443:AW554918	APN	18	25,478,012 (GRCm39)	missense	probably damaging	1.00
IGL01973:AW554918	APN	18	25,553,056 (GRCm39)	missense	probably damaging	1.00
IGL02743:AW554918	APN	18	25,423,001 (GRCm39)	nonsense	probably null
PIT4802001:AW554918	UTSW	18	25,473,132 (GRCm39)	missense	possibly damaging	0.90
R0081:AW554918	UTSW	18	25,477,959 (GRCm39)	missense	probably benign	0.00
R0567:AW554918	UTSW	18	25,533,092 (GRCm39)	missense	possibly damaging	0.83
R0709:AW554918	UTSW	18	25,596,711 (GRCm39)	missense	probably damaging	1.00
R1052:AW554918	UTSW	18	25,553,067 (GRCm39)	missense	probably benign	0.05
R1530:AW554918	UTSW	18	25,533,161 (GRCm39)	missense	probably damaging	0.97
R2406:AW554918	UTSW	18	25,473,344 (GRCm39)	missense	possibly damaging	0.95
R3414:AW554918	UTSW	18	25,533,129 (GRCm39)	missense	possibly damaging	0.76
R3815:AW554918	UTSW	18	25,533,104 (GRCm39)	missense	probably benign	0.42
R4683:AW554918	UTSW	18	25,472,852 (GRCm39)	missense	probably benign	0.04
R4722:AW554918	UTSW	18	25,307,772 (GRCm39)	nonsense	probably null
R4843:AW554918	UTSW	18	25,473,057 (GRCm39)	missense	probably benign	0.00
R5199:AW554918	UTSW	18	25,473,356 (GRCm39)	missense	probably damaging	1.00
R5279:AW554918	UTSW	18	25,308,488 (GRCm39)	missense	possibly damaging	0.95
R5580:AW554918	UTSW	18	25,472,922 (GRCm39)	missense	probably damaging	1.00
R7259:AW554918	UTSW	18	25,422,906 (GRCm39)	splice site	probably null
R7388:AW554918	UTSW	18	25,473,170 (GRCm39)	missense	probably benign	0.05
R7399:AW554918	UTSW	18	25,302,117 (GRCm39)	missense	possibly damaging	0.67
R8249:AW554918	UTSW	18	25,472,775 (GRCm39)	missense	probably benign	0.33
R8905:AW554918	UTSW	18	25,473,206 (GRCm39)	missense	probably damaging	1.00
R8916:AW554918	UTSW	18	25,423,049 (GRCm39)	missense	probably damaging	1.00
R9256:AW554918	UTSW	18	25,423,061 (GRCm39)	missense	probably damaging	1.00
R9794:AW554918	UTSW	18	25,337,031 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCTCAAATTTACAACTGCTTCC -3'
(R):5'- AACGATTCTGAGACCTGGTTTGCTGAC -3'

Sequencing Primer
(F):5'- AATGGAGGATATTTCTTATCCCCC -3'
(R):5'- ACCTGGTTTGCTGACTTAGGC -3'

Posted On

2014-03-14