Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:A830010M20Rik'

246620

Institutional Source

Beutler Lab

Gene Symbol

A830010M20Rik

Ensembl Gene

ENSMUSG00000111375

Gene Name

RIKEN cDNA A830010M20 gene

Synonyms

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107437997-107511207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107510574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1158 (L1158S)

Ref Sequence

ENSEMBL: ENSMUSP00000098511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]

AlphaFold

D3YUB6
Q80TK0

Predicted Effect

probably benign
Transcript: ENSMUST00000060553

Predicted Effect

probably damaging
Transcript: ENSMUST00000100951
AA Change: L1158S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: L1158S

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC
Pfam:DUF4596	1195	1239	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112671

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133800

Predicted Effect

probably benign
Transcript: ENSMUST00000143074

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152474

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375

Domain	Start	End	E-Value	Type
low complexity region	339	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160160

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211896
AA Change: L1670S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1526

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 36,095,152	D53G	probably benign	Het
4931440F15Rik	C	A	11: 29,823,718	A580S	probably benign	Het
A1cf	C	T	19: 31,932,545	P330S	probably benign	Het
Acta2	A	G	19: 34,248,541		probably benign	Het
Actrt3	A	G	3: 30,597,836	*370R	probably null	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Cadps2	C	G	6: 23,838,978		probably benign	Het
Camsap3	C	T	8: 3,606,808	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,033,679	A148T	possibly damaging	Het
Dab2	T	A	15: 6,435,252	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,799,017	F589S	probably damaging	Het
Ddx60	T	C	8: 62,012,436	S1376P	possibly damaging	Het
Eprs	T	C	1: 185,415,808	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,945,605		probably null	Het
Fat2	T	C	11: 55,311,901	T116A	possibly damaging	Het
Fmnl3	T	C	15: 99,370,227	T26A	probably benign	Het
Foxp1	A	G	6: 99,003,293	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,810,008	D375E	probably benign	Het
Gne	C	T	4: 44,042,196	A460T	probably damaging	Het
Gprin1	T	A	13: 54,738,425		probably null	Het
Hecw2	T	C	1: 53,904,422	M949V	possibly damaging	Het
Herc1	G	A	9: 66,428,969	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,731,115	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,622,934	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,789,823	Q683L	probably benign	Het
Krt81	A	G	15: 101,463,336	I121T	probably benign	Het
Lamb2	T	C	9: 108,482,141	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,491,700	M113V	probably benign	Het
Mnat1	G	A	12: 73,219,143		probably null	Het
Mucl1	T	A	15: 103,753,698	T68S	possibly damaging	Het
Npnt	G	T	3: 132,891,409	D461E	probably damaging	Het
Nrp1	A	T	8: 128,497,904	Q716L	probably benign	Het
Olfr358	T	G	2: 37,005,147	S156R	probably damaging	Het
Olfr623	A	T	7: 103,660,410	I280N	possibly damaging	Het
Olfr741	A	G	14: 50,485,640	T61A	possibly damaging	Het
Podxl2	T	C	6: 88,849,196	Q376R	probably damaging	Het
Pudp	T	C	18: 50,568,575	D29G	probably benign	Het
Rrs1	C	A	1: 9,545,801		probably null	Het
S1pr3	T	C	13: 51,419,578	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 31,291,613	C23*	probably null	Het
Spag8	G	T	4: 43,652,826	R212S	probably benign	Het
Tacc2	A	G	7: 130,733,569		probably null	Het
Trmt1l	C	T	1: 151,428,959		probably benign	Het
Trpa1	A	T	1: 14,884,245	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,291,973		probably benign	Het
Vmn2r23	T	G	6: 123,704,425	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,940,843	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,720,453	G766E	probably damaging	Het
Wnk1	T	C	6: 119,969,534	T553A	probably benign	Het
Xirp2	T	A	2: 67,510,770	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,660,614	D461E	probably damaging	Het

Other mutations in A830010M20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:A830010M20Rik	APN	5	107508580	missense	probably damaging	1.00
IGL02638:A830010M20Rik	APN	5	107508556	missense	possibly damaging	0.87
IGL03001:A830010M20Rik	APN	5	107497842	missense	probably damaging	1.00
IGL03007:A830010M20Rik	APN	5	107503676	missense	probably benign	0.37
IGL03008:A830010M20Rik	APN	5	107491598	splice site	probably null
IGL03281:A830010M20Rik	APN	5	107503876	missense	probably benign	0.02
R0206:A830010M20Rik	UTSW	5	107505040	missense	probably benign	0.00
R0426:A830010M20Rik	UTSW	5	107510373	missense	probably damaging	1.00
R0765:A830010M20Rik	UTSW	5	107506934	missense	probably benign	0.14
R1747:A830010M20Rik	UTSW	5	107451999	missense	probably damaging	1.00
R2013:A830010M20Rik	UTSW	5	107510789	missense	probably damaging	0.99
R3963:A830010M20Rik	UTSW	5	107507356	missense	probably damaging	0.99
R4460:A830010M20Rik	UTSW	5	107503765	missense	possibly damaging	0.74
R4776:A830010M20Rik	UTSW	5	107510451	missense	probably damaging	0.99
R4909:A830010M20Rik	UTSW	5	107507310	nonsense	probably null
R5105:A830010M20Rik	UTSW	5	107510471	missense	possibly damaging	0.70
R5155:A830010M20Rik	UTSW	5	107490703	missense	probably damaging	0.96
R6089:A830010M20Rik	UTSW	5	107507029	missense	probably damaging	0.99
R7282:A830010M20Rik	UTSW	5	107507196	missense	probably benign
R7282:A830010M20Rik	UTSW	5	107510505	missense	probably damaging	0.99
R7492:A830010M20Rik	UTSW	5	107510507	missense	probably benign	0.01
R8087:A830010M20Rik	UTSW	5	107485087	missense	probably damaging	1.00
R8694:A830010M20Rik	UTSW	5	107510769	missense	probably benign	0.02
R8777:A830010M20Rik	UTSW	5	107510427	missense	probably damaging	0.99
R8777-TAIL:A830010M20Rik	UTSW	5	107510427	missense	probably damaging	0.99
R8788:A830010M20Rik	UTSW	5	107470987	makesense	probably null
R9240:A830010M20Rik	UTSW	5	107452168	missense	probably benign	0.17
R9584:A830010M20Rik	UTSW	5	107510481	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- ACCTCCATGTATGACCACCG -3'
(R):5'- CCTTGAGGCGAACAATCTGTG -3'

Sequencing Primer
(F):5'- ATGTATGACCACCGGCCTTC -3'
(R):5'- TCTGTGGAAGAAACACTAGCC -3'

Posted On

2014-10-30