Mutagenetix > Incidental Mutations

Incidental Mutation 'R7252:C87977'

563983

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 #

R7252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144212940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 9 (D9G)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

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

AlphaFold

A2A958

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105753
AA Change: D9G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105754
AA Change: D9G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

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: D9G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: D9G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
A730017C20Rik	A	G	18: 59,066,908		probably null	Het
Abcc2	T	A	19: 43,827,949	I1226N	probably damaging	Het
Adarb2	A	G	13: 8,570,180	E234G	probably benign	Het
Ankrd52	T	C	10: 128,381,996	S282P	probably damaging	Het
Arhgef12	A	T	9: 43,015,909	S306R	probably benign	Het
Baiap2	G	T	11: 120,003,039	A514S	probably benign	Het
BC030500	T	A	8: 58,911,804		probably null	Het
C1qtnf12	T	A	4: 155,962,615	W13R	unknown	Het
Ccdc158	A	G	5: 92,650,788	V351A	probably benign	Het
Cct8	T	C	16: 87,484,919	E485G	probably benign	Het
Cep85	T	C	4: 134,148,031	D542G	probably benign	Het
Clhc1	T	A	11: 29,563,937	S340R	probably benign	Het
Cnot4	A	T	6: 35,069,427	D168E	probably damaging	Het
Cntn5	G	A	9: 9,831,635	T375I	probably benign	Het
Ctc1	T	A	11: 69,026,174	I298N	probably damaging	Het
Dchs2	T	A	3: 83,325,303	N2198K	probably benign	Het
Ddx6	G	A	9: 44,623,753		probably null	Het
Defb11	A	G	8: 21,905,457	I68T	probably benign	Het
Dip2a	C	T	10: 76,273,202	V1212I	not run	Het
Dopey1	T	A	9: 86,500,821	I269N	probably damaging	Het
Efna3	C	T	3: 89,316,664	G73S	possibly damaging	Het
Fam98b	C	G	2: 117,263,892	R228G	probably damaging	Het
Fancd2	A	T	6: 113,556,285	N521I	probably damaging	Het
Farsa	A	G	8: 84,861,328	D134G	probably damaging	Het
Fat2	A	T	11: 55,311,262	F329I	probably damaging	Het
Gm14399	A	T	2: 175,133,198	I43K	probably damaging	Het
Gpr15	A	G	16: 58,718,397	S110P	probably damaging	Het
Gpr157	T	C	4: 150,098,874	V167A	probably benign	Het
Hacd4	A	G	4: 88,426,763	I134T	possibly damaging	Het
Hpgd	T	A	8: 56,298,426	N96K	probably damaging	Het
Insm2	A	T	12: 55,600,520	T350S	probably benign	Het
Iqch	C	T	9: 63,512,236		probably null	Het
Kmt2d	A	G	15: 98,844,266	S4338P	unknown	Het
Krtap9-3	A	G	11: 99,597,970	S29P	probably benign	Het
Kyat3	T	A	3: 142,720,458	S87T	probably benign	Het
Mrpl46	T	C	7: 78,780,588	T145A	probably benign	Het
Neb	A	G	2: 52,324,961		probably null	Het
Olfr1232	T	A	2: 89,326,285		probably benign	Het
Olfr170	A	T	16: 19,606,499	H55Q	probably damaging	Het
Olfr461	A	G	6: 40,544,769	I70T	probably benign	Het
Olfr829	A	G	9: 18,857,252	Y200C	probably damaging	Het
Olfr986	C	T	9: 40,187,361	T82I	probably benign	Het
Otogl	T	C	10: 107,821,943	D1042G	probably benign	Het
Paxip1	C	T	5: 27,760,086	V659I	probably damaging	Het
Pfkl	A	G	10: 77,993,429	W382R	probably damaging	Het
Pfn1	A	G	11: 70,654,471	W4R	probably damaging	Het
Pik3c2b	G	A	1: 133,094,734	R1138H	probably benign	Het
Pkd1l3	A	G	8: 109,660,698	D1758G	probably benign	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prdm12	A	G	2: 31,642,374	N132S	possibly damaging	Het
Prokr2	T	A	2: 132,381,440	M61L	probably benign	Het
Ralgapa2	T	C	2: 146,342,751		probably null	Het
Ralgps1	A	T	2: 33,168,188	D301E	probably benign	Het
Rcbtb2	T	C	14: 73,166,780	Y231H	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Relb	C	A	7: 19,612,613	E345*	probably null	Het
Rhbdl3	A	C	11: 80,337,585	M294L	possibly damaging	Het
Rpl24	G	A	16: 55,970,116	A112T	possibly damaging	Het
Rsbn1l	C	T	5: 20,908,198	R442Q	probably damaging	Het
Rxfp3	A	T	15: 11,035,939	I449N	probably benign	Het
Sema4c	A	C	1: 36,550,015	C677G	probably damaging	Het
Sf3b3	A	C	8: 110,839,930	I256S	probably damaging	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Slc39a6	G	T	18: 24,601,385	N82K	possibly damaging	Het
Slc3a2	T	C	19: 8,723,157		probably benign	Het
Stard13	T	C	5: 151,063,169	Q292R	probably benign	Het
Tgm6	A	G	2: 130,144,964	R451G	probably damaging	Het
Tspo	G	T	15: 83,572,265	G83V	probably damaging	Het
Ubxn10	T	C	4: 138,720,876	Q163R	probably benign	Het
Ushbp1	A	G	8: 71,394,602	S129P	probably benign	Het
Vmn2r23	T	A	6: 123,741,581	V631D	probably damaging	Het
Vmn2r24	T	C	6: 123,787,232	I356T	possibly damaging	Het
Vmn2r84	C	T	10: 130,386,410	C647Y	probably damaging	Het
Vps13a	T	C	19: 16,661,064	E2356G	probably benign	Het
Wdr64	A	G	1: 175,775,674	T614A	probably benign	Het
Zdhhc16	G	T	19: 41,941,551	W271L	probably damaging	Het
Zer1	A	C	2: 30,101,892	S652A	probably damaging	Het
Zfp287	A	G	11: 62,724,829	V224A	probably damaging	Het
Zfp438	A	T	18: 5,214,874	L28*	probably null	Het
Zfp830	G	A	11: 82,764,708	A113T	probably benign	Het
Zfp865	G	T	7: 5,034,417		probably benign	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
R6528:C87977	UTSW	4	144208811	missense	probably damaging	0.99
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'- TCTAGGATTGAGGTCAAGCAATC -3'
(R):5'- CTCAATTATTGAACCAGCAGCTG -3'

Sequencing Primer
(F):5'- AATCTTGCCTAGAAATAACTGATCTC -3'
(R):5'- ACCAGCAGCTGACTTTAACTGGG -3'

Posted On

2019-06-26