Mutagenetix > Incidental Mutations

Incidental Mutation 'R1341:C87977'

157035

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

039406-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1341 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144207559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 326 (D326G)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

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

AlphaFold

A2A958

Predicted Effect

probably benign
Transcript: ENSMUST00000105753

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

probably damaging
Transcript: ENSMUST00000105755
AA Change: D156G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: D156G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: D326G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.9%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0e2	A	G	6: 48,540,111	Y75C	probably benign	Het
Cacna1g	A	G	11: 94,433,756	L1190P	probably damaging	Het
Ccdc190	A	G	1: 169,930,017	D15G	probably damaging	Het
Cep126	G	T	9: 8,099,776	P919Q	possibly damaging	Het
Chchd6	A	G	6: 89,384,641	V260A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cramp1l	T	C	17: 24,977,540	K867E	probably damaging	Het
Dnah6	A	T	6: 73,191,619	N440K	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm17421	A	T	12: 113,369,714		noncoding transcript	Het
Gm4788	T	A	1: 139,732,393	T665S	probably damaging	Het
Hdac3	A	G	18: 37,954,713	V36A	probably damaging	Het
Hist1h2bl	T	C	13: 21,716,110	K12E	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Itga10	G	A	3: 96,652,495	E489K	probably damaging	Het
Mgat5b	A	C	11: 116,978,397	I589L	probably benign	Het
Mindy4	A	G	6: 55,255,616	N348S	probably benign	Het
Mmp15	A	G	8: 95,372,303	D586G	probably benign	Het
Mmp9	A	G	2: 164,949,327	D139G	probably damaging	Het
Morc2a	C	A	11: 3,680,216	L471I	possibly damaging	Het
Mycbp2	T	A	14: 103,298,867		probably benign	Het
Mylip	T	A	13: 45,405,936	S105T	probably damaging	Het
Nat8f4	A	T	6: 85,901,424	L39Q	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Obscn	T	C	11: 59,029,372		probably benign	Het
Olfr1086	T	C	2: 86,677,163	M57V	possibly damaging	Het
Olfr1337	T	C	4: 118,782,382	T68A	probably benign	Het
Olfr279	G	A	15: 98,498,254	V261M	possibly damaging	Het
Olfr633	T	A	7: 103,947,382	V272D	possibly damaging	Het
Olfr825	G	T	10: 130,163,316	D3E	probably benign	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Rab11fip1	G	T	8: 27,143,360	A1106E	probably damaging	Het
Rfc1	A	G	5: 65,291,194	S363P	probably damaging	Het
Skint10	A	G	4: 112,765,031		probably benign	Het
Spen	T	C	4: 141,469,400	N3595D	possibly damaging	Het
Swsap1	A	G	9: 21,957,154	K241E	probably benign	Het
Tab1	A	G	15: 80,160,114	T448A	possibly damaging	Het
Tktl1	G	T	X: 74,197,683	G302V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,877,419		probably benign	Het
Usp25	A	G	16: 77,115,443	T1017A	probably benign	Het
Vmn2r78	T	A	7: 86,922,269	M429K	possibly damaging	Het
Wdr49	A	T	3: 75,429,333	F356I	probably damaging	Het
Wnt1	T	C	15: 98,791,883	F184L	probably damaging	Het
Yy1	T	C	12: 108,793,519	I36T	unknown	Het
Zbtb39	A	G	10: 127,743,500	I648V	possibly damaging	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
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
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'- GCAAGGCACTGAACTGAAAGTCCAC -3'
(R):5'- TTCCAGCCATGCCCTGAATCATGC -3'

Sequencing Primer
(F):5'- GCACTGAACTGAAAGTCCACTATAC -3'
(R):5'- ATGCCCTGAATCATGCCTATAGTG -3'

Posted On

2014-02-11