Mutagenetix > Incidental Mutations

Incidental Mutation 'R6528:C87977'

522056

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144208811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000101379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]

AlphaFold

A2A958

Predicted Effect

probably damaging
Transcript: ENSMUST00000105753
AA Change: V120A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000105754
AA Change: V120A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000105755

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	52	250	9e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105757
AA Change: V120A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: V120A

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	1e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146836
AA Change: V48A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000147855
AA Change: V122A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 55,872,561	R286H	possibly damaging	Het
Arhgap29	T	A	3: 122,014,702	N1176K	probably benign	Het
Cacfd1	T	G	2: 27,018,939	D97E	probably benign	Het
Ccnj	C	A	19: 40,832,085		probably null	Het
Chad	A	G	11: 94,565,624	Y176C	probably damaging	Het
Chd5	T	C	4: 152,356,676	L191P	probably damaging	Het
Cmtm1	T	C	8: 104,309,295	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,440,431	A449T	probably damaging	Het
Eml5	T	C	12: 98,824,637	E1334G	probably benign	Het
Endou	C	T	15: 97,719,629	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,000,356	H449N	probably benign	Het
Fkbp15	A	G	4: 62,332,270	I363T	probably damaging	Het
Gm12887	C	A	4: 121,615,637	G103C	probably damaging	Het
Gm14410	T	A	2: 177,193,508	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Irgm2	C	T	11: 58,220,052	P202S	probably benign	Het
Khsrp	G	A	17: 57,023,543	T551I	probably damaging	Het
Lpin2	T	A	17: 71,244,005	I720N	probably damaging	Het
Lypd8	G	A	11: 58,384,613	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780	L1952F	probably damaging	Het
Med13	G	A	11: 86,298,954	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,142,881	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,513,049	R654C	probably damaging	Het
Olfr1082	T	C	2: 86,594,465	D121G	probably damaging	Het
Olfr512	T	C	7: 108,713,431	L14P	probably damaging	Het
Olfr530	G	T	7: 140,373,441	H56Q	possibly damaging	Het
Olfr535	A	G	7: 140,493,051	M138V	probably damaging	Het
Pcdhb6	A	G	18: 37,334,503	D159G	probably damaging	Het
Plec	T	C	15: 76,174,430	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,989,321	D236N	probably damaging	Het
Pnma1	T	A	12: 84,147,423	I169F	probably benign	Het
Ppl	T	A	16: 5,087,616	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,688,338	M252L	probably benign	Het
Prickle4	T	A	17: 47,689,333	R246*	probably null	Het
Rad50	G	A	11: 53,652,282	T1235I	probably damaging	Het
Ranbp10	T	C	8: 105,779,956	N244S	probably damaging	Het
Robo4	T	C	9: 37,404,368	S306P	possibly damaging	Het
Shox2	C	A	3: 66,981,285	R91L	probably benign	Het
Tbx5	A	G	5: 119,883,111	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,178,999	N74S	probably benign	Het
Tgif1	G	A	17: 70,846,560		probably benign	Het
Tmem128	T	A	5: 38,266,499		probably null	Het
Trio	A	G	15: 27,805,870	S511P	probably damaging	Het
Trps1	A	G	15: 50,822,427	I114T	probably benign	Het
Ttll8	G	T	15: 88,914,238	Q765K	probably benign	Het
Usp17ld	A	T	7: 103,250,755	D323E	probably damaging	Het
Vmn1r232	G	A	17: 20,914,047	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,490,685	R87S	probably benign	Het
Vps26b	C	G	9: 27,010,466	E254D	probably benign	Het
Vps8	C	A	16: 21,554,125	Y113*	probably null	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Xcr1	A	T	9: 123,855,983	I238N	probably damaging	Het
Zar1l	T	A	5: 150,507,130	E272V	probably damaging	Het
Zfp451	A	G	1: 33,777,781	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,433,474	E77*	probably null	Het

Other mutations in C87977

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:C87977	APN	4	144208475	missense	possibly damaging	0.58
IGL02950:C87977	APN	4	144212961	missense	probably benign	0.06
IGL03174:C87977	APN	4	144208430	missense	probably benign
IGL03178:C87977	APN	4	144208251	critical splice donor site	probably null
PIT4812001:C87977	UTSW	4	144209516	missense	probably benign
R0622:C87977	UTSW	4	144213013	unclassified	probably benign
R0634:C87977	UTSW	4	144209340	critical splice donor site	probably null
R1127:C87977	UTSW	4	144207124	missense	probably damaging	1.00
R1341:C87977	UTSW	4	144207559	missense	probably damaging	1.00
R1697:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R1827:C87977	UTSW	4	144209610	missense	probably damaging	0.99
R1857:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R2859:C87977	UTSW	4	144209622	missense	probably benign	0.11
R4063:C87977	UTSW	4	144208695	missense	possibly damaging	0.87
R4114:C87977	UTSW	4	144209603	missense	probably damaging	1.00
R4130:C87977	UTSW	4	144208809	missense	probably damaging	0.99
R4255:C87977	UTSW	4	144207484	missense	possibly damaging	0.68
R4704:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R4840:C87977	UTSW	4	144208574	missense	probably damaging	0.98
R5267:C87977	UTSW	4	144213005	unclassified	probably benign
R5670:C87977	UTSW	4	144209622	missense	probably benign	0.11
R6149:C87977	UTSW	4	144207413	missense	probably damaging	0.98
R6508:C87977	UTSW	4	144207601	nonsense	probably null
R7252:C87977	UTSW	4	144212940	missense	possibly damaging	0.95
R7564:C87977	UTSW	4	144212955	missense	probably damaging	1.00
R7704:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R8737:C87977	UTSW	4	144208622	missense	probably damaging	1.00
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCACTGCAGCAAGTATGTGG -3'
(R):5'- GGCTAAAGATGCCCTCTTGC -3'

Sequencing Primer
(F):5'- CACTGCAGCAAGTATGTGGTAGATTC -3'
(R):5'- GATGCCCTCTTGCAAAGAATG -3'

Posted On

2018-06-06