Mutagenetix > Incidental Mutations

Incidental Mutation 'R8164:1810055G02Rik'

633692

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3708333-3717881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3717454 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

Predicted Effect

probably benign
Transcript: ENSMUST00000039048
AA Change: V347A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: V347A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,615,799	I4808F	probably damaging	Het
Acaa2	C	A	18: 74,795,247	Y182*	probably null	Het
Ankrd44	A	T	1: 54,663,979	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,832,505	M70K	probably damaging	Het
Brinp1	A	T	4: 68,762,921	Y457*	probably null	Het
Brox	A	T	1: 183,280,927	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,897,962	R353H	probably benign	Het
Cdhr1	A	T	14: 37,079,542	S815T	probably damaging	Het
Cnih4	A	G	1: 181,162,126	I101M	probably damaging	Het
Ctsj	T	C	13: 61,002,520	T222A	probably benign	Het
D930015E06Rik	A	T	3: 83,926,188	Y789*	probably null	Het
Dab2	C	A	15: 6,430,968	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,967,614	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,616,360	T326A	possibly damaging	Het
F10	A	G	8: 13,050,781	T232A	probably benign	Het
Fam129a	G	A	1: 151,717,588	V675M	probably benign	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gcdh	A	G	8: 84,892,552	S128P	probably damaging	Het
Gm340	T	A	19: 41,585,410	V868D	probably damaging	Het
Golph3l	G	A	3: 95,617,206	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,302,869	T25A	probably damaging	Het
Lhx9	A	T	1: 138,832,780	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,244,216	N219Y	probably damaging	Het
Mei4	A	G	9: 81,927,589	K242E	probably damaging	Het
Morc2b	T	C	17: 33,138,040	M253V	probably damaging	Het
Myh14	A	G	7: 44,625,033	V1277A	probably benign	Het
N4bp2	T	A	5: 65,809,223	W1335R	probably damaging	Het
Naip6	T	A	13: 100,316,289	H88L	probably benign	Het
Nlrp1b	A	T	11: 71,228,417	H17Q	possibly damaging	Het
Olfr404-ps1	A	T	11: 74,239,960	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,217,616	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,516,004	P729T	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rnf39	C	G	17: 36,943,400	R105G	probably damaging	Het
Sbk1	G	A	7: 126,292,539	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,374,621	T1362A	probably benign	Het
Slc2a13	A	G	15: 91,276,078	Y558H	probably damaging	Het
Tardbp	A	T	4: 148,618,603	N301K	probably benign	Het
Tet2	G	T	3: 133,467,134	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,319,420	A1261V	probably benign	Het
Tmprss11c	T	A	5: 86,231,853	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,117,420	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,315,805	M721L	probably benign	Het
Vav3	A	G	3: 109,341,052	K5R	probably benign	Het
Wdr24	C	A	17: 25,825,949		probably null	Het
Zc3hc1	A	T	6: 30,390,896	I36K	probably damaging	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3717040	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3716972	missense	possibly damaging	0.83
R0909:1810055G02Rik	UTSW	19	3715788	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3717192	missense	probably benign	0.01
R2158:1810055G02Rik	UTSW	19	3716608	missense	possibly damaging	0.46
R4833:1810055G02Rik	UTSW	19	3716872	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3717217	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3717501	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3717241	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3715728	start codon destroyed	probably null	0.04
R8265:1810055G02Rik	UTSW	19	3716568	missense	probably benign	0.00
X0026:1810055G02Rik	UTSW	19	3716826	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCTGACAACAGAGCAGGTG -3'
(R):5'- AGGATCTGGAAGCACTTAGTTTGG -3'

Sequencing Primer
(F):5'- CAACAGAGCAGGTGGGGAC -3'
(R):5'- CTTAGTTTGGTCTGAGGCAAAACAG -3'

Posted On

2020-07-13