Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:C77080'

636243

Institutional Source

Beutler Lab

Gene Symbol

C77080

Ensembl Gene

ENSMUSG00000050390

Gene Name

expressed sequence C77080

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129219578-129261404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129221459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1070 (V1070D)

Ref Sequence

ENSEMBL: ENSMUSP00000062395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]

AlphaFold

A2A7S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052602
AA Change: V1070D

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: V1070D

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	80	N/A	INTRINSIC
low complexity region	209	215	N/A	INTRINSIC
low complexity region	273	286	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
low complexity region	393	418	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	492	499	N/A	INTRINSIC
low complexity region	532	550	N/A	INTRINSIC
low complexity region	555	588	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	657	690	N/A	INTRINSIC
low complexity region	724	739	N/A	INTRINSIC
low complexity region	743	773	N/A	INTRINSIC
low complexity region	810	833	N/A	INTRINSIC
low complexity region	916	930	N/A	INTRINSIC
low complexity region	988	1020	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097873
AA Change: V1025D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: V1025D

Domain	Start	End	E-Value	Type
low complexity region	164	170	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	348	373	N/A	INTRINSIC
low complexity region	404	419	N/A	INTRINSIC
low complexity region	447	454	N/A	INTRINSIC
low complexity region	487	505	N/A	INTRINSIC
low complexity region	510	543	N/A	INTRINSIC
low complexity region	576	589	N/A	INTRINSIC
low complexity region	612	645	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC
low complexity region	698	728	N/A	INTRINSIC
low complexity region	765	788	N/A	INTRINSIC
low complexity region	871	885	N/A	INTRINSIC
low complexity region	943	975	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106051
AA Change: V1013D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: V1013D

Domain	Start	End	E-Value	Type
low complexity region	152	158	N/A	INTRINSIC
low complexity region	216	229	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	336	361	N/A	INTRINSIC
low complexity region	392	407	N/A	INTRINSIC
low complexity region	435	442	N/A	INTRINSIC
low complexity region	475	493	N/A	INTRINSIC
low complexity region	498	531	N/A	INTRINSIC
low complexity region	564	577	N/A	INTRINSIC
low complexity region	600	633	N/A	INTRINSIC
low complexity region	667	682	N/A	INTRINSIC
low complexity region	686	716	N/A	INTRINSIC
low complexity region	753	776	N/A	INTRINSIC
low complexity region	859	873	N/A	INTRINSIC
low complexity region	931	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106054

SMART Domains

Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:tRNA-synt_1b	67	358	1e-78	PFAM
Pfam:tRNA_bind	406	502	7.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in C77080

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:C77080	APN	4	129222796	splice site	probably null
IGL02654:C77080	APN	4	129222319	missense	probably damaging	1.00
IGL02797:C77080	APN	4	129223311	missense	probably damaging	0.99
IGL03231:C77080	APN	4	129223681	missense	possibly damaging	0.73
IGL03134:C77080	UTSW	4	129222487	missense	possibly damaging	0.53
R0078:C77080	UTSW	4	129227723	splice site	probably null
R0418:C77080	UTSW	4	129223684	missense	probably damaging	1.00
R1374:C77080	UTSW	4	129222289	missense	possibly damaging	0.83
R1632:C77080	UTSW	4	129222666	missense	possibly damaging	0.94
R1735:C77080	UTSW	4	129223577	missense	probably damaging	1.00
R1970:C77080	UTSW	4	129226017	splice site	probably benign
R2018:C77080	UTSW	4	129222355	missense	probably damaging	0.96
R2157:C77080	UTSW	4	129224124	missense	possibly damaging	0.76
R2201:C77080	UTSW	4	129222639	missense	probably benign
R2316:C77080	UTSW	4	129223747	missense	probably damaging	1.00
R3751:C77080	UTSW	4	129224322	unclassified	probably benign
R4648:C77080	UTSW	4	129221940	missense	probably benign	0.00
R4790:C77080	UTSW	4	129223302	missense	probably damaging	1.00
R4885:C77080	UTSW	4	129224445	missense	probably damaging	1.00
R5217:C77080	UTSW	4	129222685	missense	probably damaging	0.99
R5270:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5272:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5273:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5314:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5548:C77080	UTSW	4	129223980	frame shift	probably null
R5752:C77080	UTSW	4	129223980	frame shift	probably null
R5908:C77080	UTSW	4	129222148	missense	probably damaging	0.98
R5960:C77080	UTSW	4	129222072	missense	probably damaging	0.99
R7024:C77080	UTSW	4	129225408	missense	probably null	0.73
R7296:C77080	UTSW	4	129225418	missense	probably damaging	1.00
R7447:C77080	UTSW	4	129222042	missense	possibly damaging	0.63
R7638:C77080	UTSW	4	129221941	missense	probably benign
R7689:C77080	UTSW	4	129223773	missense	probably benign	0.25
R7819:C77080	UTSW	4	129222483	missense	probably benign	0.31
R8219:C77080	UTSW	4	129248153	missense	possibly damaging	0.55
R8348:C77080	UTSW	4	129223906	missense	probably damaging	1.00
R8360:C77080	UTSW	4	129224202	missense	possibly damaging	0.89
R8788:C77080	UTSW	4	129225950	missense	probably benign
R9252:C77080	UTSW	4	129223476	missense	probably benign	0.01
R9652:C77080	UTSW	4	129224169	missense	possibly damaging	0.90
Z1088:C77080	UTSW	4	129222298	missense	probably damaging	1.00
Z1176:C77080	UTSW	4	129223704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGAATCCTTTCAGGCAAAG -3'
(R):5'- CACTTAGGTTTAAAATGGGGCGG -3'

Sequencing Primer
(F):5'- GTCACTTGGAGGATGGGCAAC -3'
(R):5'- TTTAAAATGGGGCGGAGACACC -3'

Posted On

2020-07-13