Mutagenetix > Incidental Mutation

Incidental Mutation 'R8300:Ighv1-59'

639215

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-59

Ensembl Gene

ENSMUSG00000095197

Gene Name

immunoglobulin heavy variable V1-59

Synonyms

MMRRC Submission

067788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115298702-115299134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115298987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 22 (Q22H)

Ref Sequence

ENSEMBL: ENSMUSP00000141949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103530] [ENSMUST00000195359]

AlphaFold

A0A075B5X0

Predicted Effect

probably benign
Transcript: ENSMUST00000103530
AA Change: Q21H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100311
Gene: ENSMUSG00000095197
AA Change: Q21H

Domain	Start	End	E-Value	Type
IGv	35	116	1.01e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195359
AA Change: Q22H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141949
Gene: ENSMUSG00000095197
AA Change: Q22H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4e-34	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	G	9: 21,437,561 (GRCm39)	M1V	probably null	Het
Abca12	T	A	1: 71,353,123 (GRCm39)	N773I	possibly damaging	Het
Adh7	A	G	3: 137,929,825 (GRCm39)	E167G	probably damaging	Het
Ank2	T	A	3: 126,804,555 (GRCm39)	D622V		Het
Asf1b	T	A	8: 84,695,805 (GRCm39)	F149I	possibly damaging	Het
Bach1	T	C	16: 87,515,996 (GRCm39)	V179A	probably benign	Het
C1ra	C	T	6: 124,498,597 (GRCm39)	A430V	probably benign	Het
Cacna1c	T	A	6: 118,575,717 (GRCm39)	Q1944L		Het
Camkk1	T	C	11: 72,918,266 (GRCm39)	V158A	probably benign	Het
Ccdc152	T	C	15: 3,327,634 (GRCm39)	T48A	probably benign	Het
Cd180	A	T	13: 102,841,301 (GRCm39)	M116L	probably benign	Het
Clca3a2	C	T	3: 144,804,692 (GRCm39)	G12R	probably benign	Het
Coq8b	T	C	7: 26,941,671 (GRCm39)	V252A	possibly damaging	Het
Cp	A	G	3: 20,011,385 (GRCm39)		probably benign	Het
Ctsj	A	T	13: 61,150,285 (GRCm39)	V238E	probably damaging	Het
Ctsj	C	T	13: 61,150,286 (GRCm39)	V238I	probably damaging	Het
Cxcr2	A	T	1: 74,198,333 (GRCm39)	M276L	probably benign	Het
Drd5	T	C	5: 38,477,672 (GRCm39)	S222P	probably damaging	Het
Egflam	T	C	15: 7,283,932 (GRCm39)	D269G	possibly damaging	Het
Fbn2	C	T	18: 58,342,687 (GRCm39)	R64Q	probably benign	Het
Fyb2	A	T	4: 104,857,689 (GRCm39)	K622M	probably damaging	Het
Gm10220	T	C	5: 26,322,818 (GRCm39)	E198G	probably damaging	Het
Gm1527	A	T	3: 28,980,744 (GRCm39)	N615Y	possibly damaging	Het
Gpatch3	A	G	4: 133,307,140 (GRCm39)	H308R	probably damaging	Het
Gsdmc4	A	G	15: 63,766,790 (GRCm39)	I261T	probably damaging	Het
Gsg1	T	G	6: 135,214,580 (GRCm39)	T310P	probably benign	Het
Hecw2	T	C	1: 53,926,775 (GRCm39)	S1075G	probably null	Het
Hyal6	A	G	6: 24,734,087 (GRCm39)	T7A	probably benign	Het
Lyst	T	A	13: 13,838,643 (GRCm39)	M1853K	possibly damaging	Het
Maco1	A	G	4: 134,555,762 (GRCm39)	I237T	probably benign	Het
Mccc1	A	T	3: 36,017,753 (GRCm39)	M649K	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nek4	A	G	14: 30,692,352 (GRCm39)	D399G		Het
Obscn	T	C	11: 58,933,896 (GRCm39)	K5323E	probably benign	Het
Or6p1	T	A	1: 174,258,100 (GRCm39)	Y35*	probably null	Het
Paics	T	C	5: 77,109,253 (GRCm39)	V196A	probably damaging	Het
Pced1a	C	A	2: 130,266,157 (GRCm39)		probably benign	Het
Pierce1	A	T	2: 28,352,435 (GRCm39)	Y109*	probably null	Het
Pik3cb	A	G	9: 98,928,711 (GRCm39)	V848A	probably damaging	Het
Ppm1h	T	A	10: 122,618,118 (GRCm39)	N92K	probably damaging	Het
Ppp1r16b	T	A	2: 158,588,571 (GRCm39)	I152N	probably damaging	Het
Pramel7	A	G	2: 87,319,967 (GRCm39)	M442T	probably benign	Het
Prex2	A	T	1: 11,301,942 (GRCm39)	N1415I	possibly damaging	Het
Pum3	T	C	19: 27,399,773 (GRCm39)	K220R	probably benign	Het
Qrich2	G	T	11: 116,347,175 (GRCm39)	D1216E	probably benign	Het
Rbbp8	T	A	18: 11,838,833 (GRCm39)		silent	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp2	C	T	5: 128,874,835 (GRCm39)	R252Q	probably damaging	Het
Rnpep	T	C	1: 135,211,397 (GRCm39)	H117R	probably benign	Het
Serpinb10	A	G	1: 107,474,456 (GRCm39)	D206G	probably benign	Het
Sh3tc1	C	T	5: 35,854,792 (GRCm39)	V1302M	probably benign	Het
Slmap	T	C	14: 26,139,374 (GRCm39)	E780G	possibly damaging	Het
Snrpg	T	A	6: 86,353,558 (GRCm39)	V46E	probably damaging	Het
Spef1l	A	T	7: 139,557,091 (GRCm39)	I98N	probably damaging	Het
Sptbn5	T	A	2: 119,878,058 (GRCm39)	Q953L	noncoding transcript	Het
Stard9	C	T	2: 120,535,250 (GRCm39)	L3836F	possibly damaging	Het
Tcerg1	T	A	18: 42,683,137 (GRCm39)	M619K	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf9	C	T	4: 151,017,556 (GRCm39)	T137M	probably damaging	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trak1	G	T	9: 121,289,565 (GRCm39)	E626*	probably null	Het
Trio	G	T	15: 27,855,108 (GRCm39)	H750Q	possibly damaging	Het
U2af2	T	C	7: 5,070,414 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,182,347 (GRCm39)	I451V	probably benign	Het
Zfp930	A	T	8: 69,680,998 (GRCm39)	N230I	probably benign	Het

Other mutations in Ighv1-59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Ighv1-59	APN	12	115,298,992 (GRCm39)	missense	possibly damaging	0.65
R5697:Ighv1-59	UTSW	12	115,298,968 (GRCm39)	missense	possibly damaging	0.65
R6193:Ighv1-59	UTSW	12	115,298,786 (GRCm39)	missense	probably damaging	1.00
R6512:Ighv1-59	UTSW	12	115,299,003 (GRCm39)	missense	probably damaging	0.98
R9260:Ighv1-59	UTSW	12	115,298,737 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GCTGGAGGATGTGTCTACAG -3'
(R):5'- TCTACAGTTACTGAGCACACAGG -3'

Sequencing Primer
(F):5'- ACAGTCAATGTGGCCTTGC -3'
(R):5'- GTTACTGAGCACACAGGACCTCG -3'

Posted On

2020-07-28