Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Ighv5-9-1'

589014

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

MMRRC Submission

045685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113699733-113700026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113699819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 98 (I98F)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

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

AlphaFold

A0A075B5Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103452
AA Change: I88F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: I88F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192264
AA Change: I98F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: I98F

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

Coding Region Coverage

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

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Alms1	A	G	6: 85,655,399 (GRCm39)	N2846S	probably benign	Het
Amt	A	C	9: 108,177,077 (GRCm39)	E228D	probably damaging	Het
Ankar	T	C	1: 72,714,925 (GRCm39)	M618V	probably benign	Het
Ankrd60	T	C	2: 173,412,834 (GRCm39)		probably null	Het
Aoc1	A	G	6: 48,883,320 (GRCm39)	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,386,873 (GRCm39)	I108F	probably benign	Het
Arfgef3	G	T	10: 18,522,029 (GRCm39)	Q666K	probably damaging	Het
Bin2	T	A	15: 100,542,894 (GRCm39)	R430W	probably damaging	Het
Brme1	A	G	8: 84,893,499 (GRCm39)	Q222R	possibly damaging	Het
Cdh18	T	A	15: 23,367,056 (GRCm39)	V254D	probably damaging	Het
Cfap46	A	T	7: 139,183,155 (GRCm39)	S159R		Het
Clnk	A	T	5: 38,893,698 (GRCm39)	S220T	probably benign	Het
Col19a1	G	T	1: 24,361,165 (GRCm39)	H608Q	probably benign	Het
Cplx1	C	T	5: 108,673,395 (GRCm39)	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,577,601 (GRCm39)	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,009,872 (GRCm39)	E79G	probably benign	Het
Eif4g3	T	C	4: 137,898,429 (GRCm39)	S902P	probably damaging	Het
Emilin3	T	A	2: 160,751,199 (GRCm39)	E183D	probably benign	Het
Fam124b	G	A	1: 80,191,554 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,690,275 (GRCm39)	Y1816C	probably damaging	Het
Il31ra	G	A	13: 112,688,514 (GRCm39)	P21L	possibly damaging	Het
Kat6a	A	G	8: 23,352,578 (GRCm39)	I121V	possibly damaging	Het
Kif11	T	C	19: 37,400,008 (GRCm39)	W832R	probably benign	Het
Klhl9	T	C	4: 88,638,772 (GRCm39)	T490A	possibly damaging	Het
Lars1	G	T	18: 42,377,956 (GRCm39)	A153E	probably benign	Het
Muc5b	A	T	7: 141,421,334 (GRCm39)	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,561 (GRCm39)	C294*	probably null	Het
Nceh1	T	A	3: 27,237,366 (GRCm39)		probably null	Het
Ncf1	T	A	5: 134,256,121 (GRCm39)	T93S	probably benign	Het
Nfatc2	G	A	2: 168,376,919 (GRCm39)	R545C	probably damaging	Het
Nos1	C	T	5: 118,042,009 (GRCm39)	P545S	probably benign	Het
Ogfod3	C	A	11: 121,093,804 (GRCm39)	V69F	probably damaging	Het
Or4a27	A	T	2: 88,559,180 (GRCm39)	Y254*	probably null	Het
Phf12	A	G	11: 77,916,960 (GRCm39)	N272S	unknown	Het
Prkcz	T	A	4: 155,346,939 (GRCm39)	I581F	probably damaging	Het
Rasgrf2	T	C	13: 92,136,085 (GRCm39)	H8R		Het
Rb1cc1	T	A	1: 6,335,782 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,248,411 (GRCm39)	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,410,614 (GRCm39)		probably benign	Het
Sanbr	A	C	11: 23,534,550 (GRCm39)	C602W	possibly damaging	Het
Serinc3	A	T	2: 163,472,889 (GRCm39)	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,865,029 (GRCm39)	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,387,797 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,992,108 (GRCm39)	H1993Q	probably benign	Het
Tap1	A	G	17: 34,407,212 (GRCm39)	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,127,410 (GRCm39)		probably null	Het
Ube2ql1	G	T	13: 69,887,066 (GRCm39)	Q132K	probably benign	Het
Unc13d	T	C	11: 115,957,547 (GRCm39)	N803D	probably damaging	Het
Vcan	G	A	13: 89,840,342 (GRCm39)	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,707,696 (GRCm39)	Y2630C		Het
Wdr93	A	G	7: 79,435,474 (GRCm39)	T668A	probably benign	Het

Other mutations in Ighv5-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Ighv5-9-1	APN	12	113,700,010 (GRCm39)	missense	probably damaging	1.00
R4921:Ighv5-9-1	UTSW	12	113,699,914 (GRCm39)	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113,699,777 (GRCm39)	missense	possibly damaging	0.70
R5559:Ighv5-9-1	UTSW	12	113,699,745 (GRCm39)	nonsense	probably null
R5678:Ighv5-9-1	UTSW	12	113,700,207 (GRCm39)	missense	possibly damaging	0.72
R7529:Ighv5-9-1	UTSW	12	113,699,954 (GRCm39)	missense	possibly damaging	0.91
R7791:Ighv5-9-1	UTSW	12	113,700,165 (GRCm39)	missense	probably damaging	0.99
R9272:Ighv5-9-1	UTSW	12	113,699,818 (GRCm39)	missense	probably damaging	1.00
R9331:Ighv5-9-1	UTSW	12	113,699,878 (GRCm39)	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113,699,740 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCCATATGCTCTCTGCGC -3'
(R):5'- TTGCAGGTGTCCAGTGTGAC -3'

Sequencing Primer
(F):5'- CCCCCTGCTGGTCCTGG -3'
(R):5'- TCCAGTGTGACGTGAAGC -3'

Posted On

2019-10-24