Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:Ighv5-9-1'

442905

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

MMRRC Submission

043317-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113736111-113736630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113736587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 4 (E4G)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]

AlphaFold

A0A075B5Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000103452

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210

Domain	Start	End	E-Value	Type
IGv	35	116	8.34e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192264
AA Change: E4G

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: E4G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGv	45	126	3.3e-35	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,516,529	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,662,053	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,496,872	C43W	probably damaging	Het
Aatk	T	C	11: 120,010,154	T1082A	probably benign	Het
Acsl1	T	A	8: 46,492,850	F7I	probably benign	Het
Adgb	T	G	10: 10,431,326	S299R	possibly damaging	Het
Apob	T	C	12: 7,991,494	F738L	possibly damaging	Het
Art3	T	C	5: 92,392,550	Y51H	probably damaging	Het
Atr	C	T	9: 95,951,487	Q2597*	probably null	Het
Atrn	T	C	2: 130,970,016	V627A	probably damaging	Het
Baz1a	T	C	12: 54,900,532	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,231,572	S67P	possibly damaging	Het
Cd164	T	C	10: 41,519,952		probably null	Het
Cep295	T	C	9: 15,322,858	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,307,265	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239	A998V	unknown	Het
Csrnp2	T	C	15: 100,481,804	*535W	probably null	Het
Dhrs7	C	T	12: 72,657,332	G130D	probably damaging	Het
Dnah3	T	C	7: 120,077,851	T477A	probably benign	Het
Dscam	A	G	16: 96,790,900	F725S	probably benign	Het
Dstyk	T	C	1: 132,453,291	V508A	probably benign	Het
Eif4g3	A	G	4: 138,151,742	E595G	probably damaging	Het
Epha6	A	T	16: 59,818,979	V844E	probably damaging	Het
Esrp2	G	A	8: 106,132,118	A629V	probably damaging	Het
Fam208a	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,429,123		probably benign	Het
Fndc3b	A	G	3: 27,429,023	S1009P	probably benign	Het
Gm13762	A	T	2: 88,972,973	L306*	probably null	Het
Gm14124	A	T	2: 150,268,505	R372*	probably null	Het
Gm8257	A	T	14: 44,657,249	I28N	probably damaging	Het
Ints3	A	G	3: 90,403,548	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,550,794		probably benign	Het
Npy1r	T	C	8: 66,704,203	C92R	probably damaging	Het
Nup210l	T	C	3: 90,190,959	V1406A	probably damaging	Het
Olfr1248	A	G	2: 89,617,281	F304L	probably benign	Het
Olfr978	T	C	9: 39,993,903	V31A	probably benign	Het
Pqlc1	T	C	18: 80,257,034	I40T	probably damaging	Het
Prune2	A	G	19: 17,118,668	D512G	probably damaging	Het
Qdpr	T	C	5: 45,447,637	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,724,876	E2G	unknown	Het
Setd2	A	G	9: 110,602,186	T5A	probably damaging	Het
Srpk2	TCA	T	5: 23,524,606		probably null	Het
Sympk	T	C	7: 19,049,472		probably null	Het
Tchh	A	T	3: 93,445,626	Q791L	unknown	Het
Tmed11	T	C	5: 108,786,165	D55G	probably benign	Het
Tnrc18	T	C	5: 142,733,564	D1989G	unknown	Het
Utp20	A	T	10: 88,809,117	H582Q	probably benign	Het
Utrn	A	G	10: 12,442,018	I554T	probably damaging	Het
Zfp119a	T	C	17: 55,868,336	E53G	probably benign	Het

Other mutations in Ighv5-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Ighv5-9-1	APN	12	113736390	missense	probably damaging	1.00
R4921:Ighv5-9-1	UTSW	12	113736294	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113736157	missense	possibly damaging	0.70
R5559:Ighv5-9-1	UTSW	12	113736125	nonsense	probably null
R7529:Ighv5-9-1	UTSW	12	113736334	missense	possibly damaging	0.91
R7618:Ighv5-9-1	UTSW	12	113736199	missense	probably damaging	0.99
R7791:Ighv5-9-1	UTSW	12	113736545	missense	probably damaging	0.99
R9272:Ighv5-9-1	UTSW	12	113736198	missense	probably damaging	1.00
R9331:Ighv5-9-1	UTSW	12	113736258	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113736120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATCCAGAGGCTGCACAG -3'
(R):5'- TGGTAACATCAGTGGCATCAG -3'

Sequencing Primer
(F):5'- AGCTTCACGTCACACTGG -3'
(R):5'- GCATCAGCCTAGGTCCAAC -3'

Posted On

2016-11-09