Mutagenetix > Incidental Mutation

Incidental Mutation 'R3414:Ighv1-23'

475601

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-23

Ensembl Gene

ENSMUSG00000103290

Gene Name

immunoglobulin heavy variable V1-23

Synonyms

Ighv1-23, immunoglobulin heavy variable V1-23

MMRRC Submission

040632-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R3414 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

114728070-114728363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114728087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 112 (V112I)

Ref Sequence

ENSEMBL: ENSMUSP00000141293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194625]

AlphaFold

A0A0A6YVW3

Predicted Effect

probably benign
Transcript: ENSMUST00000194625
AA Change: V112I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: V112I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.5e-26	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
AW554918	C	A	18: 25,533,129 (GRCm39)	T261K	possibly damaging	Het
Cttnbp2	A	G	6: 18,389,204 (GRCm39)	V1178A	probably benign	Het
Ddx18	T	C	1: 121,489,878 (GRCm39)	N177S	probably benign	Het
Dhx29	A	G	13: 113,083,807 (GRCm39)	K621E	probably damaging	Het
Eef2	G	T	10: 81,013,692 (GRCm39)	R66L	probably damaging	Het
Ergic2	A	G	6: 148,108,179 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Ifi202b	A	G	1: 173,791,479 (GRCm39)	S400P	probably benign	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Il7	G	T	3: 7,641,093 (GRCm39)	Q67K	probably benign	Het
Inpp5d	C	A	1: 87,595,779 (GRCm39)	T175N	possibly damaging	Het
Klk1b26	A	G	7: 43,666,297 (GRCm39)	I247V	probably benign	Het
Klrc1	A	G	6: 129,654,726 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,044,598 (GRCm39)	C166R	probably damaging	Het
Mrps5	A	G	2: 127,438,832 (GRCm39)	D219G	probably benign	Het
Mtus1	T	C	8: 41,501,100 (GRCm39)	T806A	probably damaging	Het
Naip2	G	A	13: 100,325,771 (GRCm39)	R46*	probably null	Het
Nos2	A	T	11: 78,848,414 (GRCm39)	Y1107F	probably benign	Het
Nsd3	T	C	8: 26,190,047 (GRCm39)	I135T	probably damaging	Het
Or13c7b	C	T	4: 43,821,258 (GRCm39)	M34I	probably benign	Het
Or2d4	G	T	7: 106,543,383 (GRCm39)	S275*	probably null	Het
Or6c65	A	G	10: 129,604,301 (GRCm39)	H312R	probably benign	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Ppip5k1	A	T	2: 121,158,142 (GRCm39)	S252R	probably damaging	Het
Proc	T	A	18: 32,256,738 (GRCm39)	T310S	probably benign	Het
Psg21	A	T	7: 18,386,305 (GRCm39)	L227Q	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Sec24a	T	A	11: 51,620,285 (GRCm39)	N456Y	probably damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Top1mt	T	C	15: 75,529,025 (GRCm39)	N573S	probably benign	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Unc13b	T	A	4: 43,234,658 (GRCm39)		probably benign	Het
Utp25	A	C	1: 192,810,810 (GRCm39)	S64R	possibly damaging	Het
Vmn1r2	T	A	4: 3,172,696 (GRCm39)	M205K	probably damaging	Het
Zfhx4	A	G	3: 5,468,883 (GRCm39)	K3014E	probably damaging	Het

Other mutations in Ighv1-23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3413:Ighv1-23	UTSW	12	114,728,087 (GRCm39)	missense	probably benign	0.10
R4602:Ighv1-23	UTSW	12	114,728,179 (GRCm39)	missense	probably benign	0.27
R4911:Ighv1-23	UTSW	12	114,728,372 (GRCm39)	missense	possibly damaging	0.81
R5347:Ighv1-23	UTSW	12	114,728,376 (GRCm39)	critical splice acceptor site	probably benign
R6603:Ighv1-23	UTSW	12	114,728,141 (GRCm39)	missense	probably damaging	1.00
R7438:Ighv1-23	UTSW	12	114,728,095 (GRCm39)	missense	probably damaging	1.00
R7771:Ighv1-23	UTSW	12	114,728,356 (GRCm39)	missense	probably benign	0.25
R8328:Ighv1-23	UTSW	12	114,728,116 (GRCm39)	missense	probably damaging	1.00
R8858:Ighv1-23	UTSW	12	114,728,083 (GRCm39)	missense	probably benign	0.39
R9283:Ighv1-23	UTSW	12	114,728,225 (GRCm39)	missense	probably damaging	1.00
Z1177:Ighv1-23	UTSW	12	114,728,305 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-05-11