Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:C87414'

649048

Institutional Source

Beutler Lab

Gene Symbol

C87414

Ensembl Gene

ENSMUSG00000070686

Gene Name

expressed sequence C87414

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7941 (G1)

Quality Score

107.008

Status

Not validated

Chromosome

Chromosomal Location

93634993-93671551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93638028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 131 (V131D)

Ref Sequence

ENSEMBL: ENSMUSP00000124780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]

AlphaFold

E9PWI7

Predicted Effect

probably benign
Transcript: ENSMUST00000076321

SMART Domains

Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	67	191	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159578
AA Change: V131D

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000160382
AA Change: V131D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000162964
AA Change: V131D

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: V131D

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	199	388	1e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	Het

Other mutations in C87414

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:C87414	APN	5	93636477	missense	probably damaging	1.00
IGL01642:C87414	APN	5	93636295	missense	possibly damaging	0.84
IGL02735:C87414	APN	5	93638644	missense	possibly damaging	0.94
PIT4466001:C87414	UTSW	5	93636288	missense	probably damaging	1.00
R1830:C87414	UTSW	5	93637686	missense	probably benign	0.03
R2071:C87414	UTSW	5	93636516	missense	probably damaging	1.00
R4404:C87414	UTSW	5	93637713	missense	possibly damaging	0.81
R4606:C87414	UTSW	5	93636602	missense	probably damaging	0.96
R4672:C87414	UTSW	5	93636323	missense	probably damaging	0.99
R5056:C87414	UTSW	5	93638925	start gained	probably benign
R5118:C87414	UTSW	5	93637797	missense	probably benign	0.03
R5288:C87414	UTSW	5	93637748	missense	possibly damaging	0.86
R5441:C87414	UTSW	5	93636597	missense	possibly damaging	0.84
R6190:C87414	UTSW	5	93638078	missense	probably benign	0.14
R6513:C87414	UTSW	5	93637532	splice site	probably null
R7464:C87414	UTSW	5	93636240	missense	probably damaging	1.00
R7961:C87414	UTSW	5	93636684	missense	probably damaging	1.00
R8130:C87414	UTSW	5	93636738	missense	probably damaging	1.00
R8389:C87414	UTSW	5	93637728	missense	probably benign	0.10
R8725:C87414	UTSW	5	93636457	missense	probably damaging	1.00
R8742:C87414	UTSW	5	93638076	missense	probably damaging	0.96
R8812:C87414	UTSW	5	93637801	missense	possibly damaging	0.84
R8849:C87414	UTSW	5	93636338	missense	probably benign	0.01
R8930:C87414	UTSW	5	93638085	missense	probably benign	0.39
R8932:C87414	UTSW	5	93638085	missense	probably benign	0.39
R8976:C87414	UTSW	5	93638118	missense	probably damaging	0.99
R9201:C87414	UTSW	5	93638078	missense	probably benign	0.14
R9229:C87414	UTSW	5	93636230	nonsense	probably null
R9287:C87414	UTSW	5	93638110	missense	possibly damaging	0.77
R9347:C87414	UTSW	5	93638838	missense	probably damaging	0.96
R9536:C87414	UTSW	5	93636430	missense	probably damaging	1.00
RF006:C87414	UTSW	5	93636703	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ATAACTTGGTCTGGTGGGTCCC -3'
(R):5'- CCACCTTGGATATCAGGTGC -3'

Sequencing Primer
(F):5'- GTGGGTCCCAGATCCTCATC -3'
(R):5'- CCTTGGATATCAGGTGCTTAAAAAG -3'

Posted On

2020-09-15