Mutagenetix > Incidental Mutation

Incidental Mutation 'R6091:Ighv1-54'

485938

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-54

Ensembl Gene

ENSMUSG00000094787

Gene Name

immunoglobulin heavy variable V1-54

Synonyms

MMRRC Submission

044248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115157295-115157588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115157497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 50 (N50S)

Ref Sequence

ENSEMBL: ENSMUSP00000100306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103525]

AlphaFold

A0A075B5W5

Predicted Effect

probably benign
Transcript: ENSMUST00000103525
AA Change: N50S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100306
Gene: ENSMUSG00000094787
AA Change: N50S

Domain	Start	End	E-Value	Type
IGv	36	117	1.09e-27	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	G	2: 35,252,348 (GRCm39)	T50P	possibly damaging	Het
Adad1	A	G	3: 37,139,118 (GRCm39)	E396G	possibly damaging	Het
Adamtsl3	T	A	7: 82,114,829 (GRCm39)	C232S	probably damaging	Het
AI606181	T	C	19: 41,582,063 (GRCm39)	S78P	unknown	Het
Amph	T	A	13: 19,309,293 (GRCm39)	M457K	probably benign	Het
Ano1	A	T	7: 144,223,171 (GRCm39)	M174K	probably benign	Het
C3	T	A	17: 57,528,967 (GRCm39)	K632*	probably null	Het
Cep170	C	T	1: 176,583,397 (GRCm39)	G994D	probably damaging	Het
Chd7	T	C	4: 8,751,875 (GRCm39)	V124A	probably damaging	Het
Chd9	A	G	8: 91,761,691 (GRCm39)	K2259E	probably damaging	Het
Col7a1	A	G	9: 108,784,402 (GRCm39)	T137A	unknown	Het
Dcc	C	T	18: 71,942,185 (GRCm39)	V311I	probably benign	Het
Ddx42	A	T	11: 106,125,796 (GRCm39)	Q282L	probably damaging	Het
Fcgbp	A	G	7: 27,804,390 (GRCm39)	T1833A	possibly damaging	Het
Fpr-rs3	A	G	17: 20,844,532 (GRCm39)	I203T	probably benign	Het
Frem1	A	G	4: 82,818,796 (GRCm39)	I2139T	probably benign	Het
Frmpd2	T	C	14: 33,244,820 (GRCm39)	V546A	probably damaging	Het
Gbp11	G	T	5: 105,479,254 (GRCm39)	T123N	possibly damaging	Het
Hs3st1	G	A	5: 39,772,007 (GRCm39)	P212L	probably damaging	Het
Ifnb1	T	A	4: 88,440,813 (GRCm39)	M67L	probably benign	Het
Ikzf4	G	A	10: 128,470,542 (GRCm39)	T326I	probably benign	Het
Ints2	A	T	11: 86,127,429 (GRCm39)	V501E	probably damaging	Het
Mfsd1	C	A	3: 67,507,270 (GRCm39)		probably null	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mrps11	G	A	7: 78,438,466 (GRCm39)	A73T	possibly damaging	Het
Mterf4	T	C	1: 93,229,291 (GRCm39)	E311G	probably damaging	Het
Mx2	A	G	16: 97,347,635 (GRCm39)	T176A	probably damaging	Het
Mycbp2	A	C	14: 103,460,482 (GRCm39)	L1495R	probably damaging	Het
Myo3b	A	G	2: 70,069,113 (GRCm39)	T451A	probably benign	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Nbeal1	A	G	1: 60,220,715 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,310,443 (GRCm39)	L201P	probably damaging	Het
Nfxl1	G	T	5: 72,671,533 (GRCm39)	L909I	probably benign	Het
Nr3c1	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	18: 39,620,011 (GRCm39)		probably benign	Het
Or5aq1b	T	A	2: 86,901,705 (GRCm39)	S258C	probably benign	Het
Plscr5	A	G	9: 92,086,437 (GRCm39)	T136A	probably benign	Het
Ppp1r3a	G	A	6: 14,719,339 (GRCm39)	T525I	probably benign	Het
Ptprg	G	A	14: 12,215,979 (GRCm38)	G1143R	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Ryr1	T	C	7: 28,771,398 (GRCm39)	T2541A	probably benign	Het
Sall1	A	G	8: 89,755,247 (GRCm39)	L1244P	probably damaging	Het
Sec16a	G	A	2: 26,316,482 (GRCm39)	H1673Y	probably damaging	Het
Slc22a19	A	G	19: 7,688,428 (GRCm39)	I44T	probably benign	Het
Snap91	T	A	9: 86,721,681 (GRCm39)	N53Y	probably damaging	Het
Sorcs1	T	C	19: 50,276,539 (GRCm39)	T338A	possibly damaging	Het
Taf6l	T	C	19: 8,755,920 (GRCm39)	T243A	probably benign	Het
Tex10	T	C	4: 48,459,891 (GRCm39)	R487G	probably damaging	Het
Tfcp2	G	T	15: 100,410,194 (GRCm39)	T391N	probably damaging	Het
Tnxb	G	A	17: 34,929,338 (GRCm39)	V2794M	probably damaging	Het
Ush2a	T	G	1: 188,132,000 (GRCm39)	C741G	probably damaging	Het
Vmn1r3	T	A	4: 3,184,684 (GRCm39)	I208F	probably damaging	Het
Vmn2r28	T	A	7: 5,496,790 (GRCm39)	I21F	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,958 (GRCm39)	D610G	probably benign	Het
Wbp1	T	C	6: 83,096,468 (GRCm39)	S229G	probably benign	Het
Xirp1	A	G	9: 119,847,029 (GRCm39)	V618A	probably benign	Het
Zbtb32	A	G	7: 30,291,254 (GRCm39)	S14P	possibly damaging	Het
Zfp24	A	G	18: 24,147,269 (GRCm39)	S348P	probably damaging	Het

Other mutations in Ighv1-54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Ighv1-54	APN	12	115,157,557 (GRCm39)	missense	probably damaging	1.00
IGL02195:Ighv1-54	APN	12	115,157,570 (GRCm39)	missense	possibly damaging	0.75
IGL02561:Ighv1-54	APN	12	115,157,389 (GRCm39)	missense	probably benign	0.22
IGL03084:Ighv1-54	APN	12	115,157,736 (GRCm39)	utr 5 prime	probably benign
R3035:Ighv1-54	UTSW	12	115,157,597 (GRCm39)	missense	probably damaging	0.99
R3767:Ighv1-54	UTSW	12	115,157,596 (GRCm39)	missense	possibly damaging	0.92
R4856:Ighv1-54	UTSW	12	115,157,423 (GRCm39)	missense	probably damaging	1.00
R4948:Ighv1-54	UTSW	12	115,157,438 (GRCm39)	missense	probably benign	0.35
R7843:Ighv1-54	UTSW	12	115,157,483 (GRCm39)	missense	probably damaging	1.00
R9045:Ighv1-54	UTSW	12	115,157,500 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GGATGTGGTTACAACACTGTG -3'
(R):5'- GGGCTCCCCATTTCCAAATC -3'

Sequencing Primer
(F):5'- GTGTCTTGCACAGAAATAGACCGC -3'
(R):5'- GGCTCCCCATTTCCAAATCTGAAG -3'

Posted On

2017-08-16