Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Ighv1-20'

433883

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-20

Ensembl Gene

ENSMUSG00000095761

Gene Name

immunoglobulin heavy variable V1-20

Synonyms

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114687392-114687685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114687471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 91 (V91E)

Ref Sequence

ENSEMBL: ENSMUSP00000141859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103506] [ENSMUST00000194968]

AlphaFold

A0A075B5U6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103506
AA Change: V90E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100287
Gene: ENSMUSG00000095761
AA Change: V90E

Domain	Start	End	E-Value	Type
IGv	35	116	1.42e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194968
AA Change: V91E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141859
Gene: ENSMUSG00000095761
AA Change: V91E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	5.7e-29	SMART

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	T	C	2: 25,469,714 (GRCm39)	T66A	probably benign	Het
Akap11	T	C	14: 78,750,869 (GRCm39)	N506S	probably benign	Het
Brinp3	A	T	1: 146,777,197 (GRCm39)	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,615,407 (GRCm39)	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,339,454 (GRCm39)	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,148,048 (GRCm39)	T76K	probably benign	Het
Col16a1	T	C	4: 129,986,564 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,455,703 (GRCm39)	D583G	probably benign	Het
Cxcr4	C	A	1: 128,517,362 (GRCm39)	A100S	probably damaging	Het
Fancl	G	T	11: 26,419,677 (GRCm39)	C305F	probably damaging	Het
Gcnt2	T	C	13: 41,107,055 (GRCm39)	V308A	probably benign	Het
Gm11733	A	T	11: 117,375,322 (GRCm39)	I24L	unknown	Het
Gm973	A	G	1: 59,667,446 (GRCm39)		probably null	Het
Heatr5b	A	T	17: 79,109,089 (GRCm39)	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,394,838 (GRCm39)		probably null	Het
Inhba	A	G	13: 16,201,371 (GRCm39)	E311G	probably damaging	Het
Irx3	G	T	8: 92,526,108 (GRCm39)		probably null	Het
Jag1	C	A	2: 136,926,915 (GRCm39)	C948F	probably damaging	Het
Kcna2	T	C	3: 107,012,625 (GRCm39)	I402T	possibly damaging	Het
Kcnh8	A	T	17: 53,284,844 (GRCm39)	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,835,870 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,343,854 (GRCm39)	T2123A	probably benign	Het
Mdfic2	A	T	6: 98,215,237 (GRCm39)	C129S	probably damaging	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Msh6	G	A	17: 88,291,989 (GRCm39)	R248Q	possibly damaging	Het
Odf2l	G	T	3: 144,852,627 (GRCm39)	R457L	probably benign	Het
Or6c69c	A	T	10: 129,910,898 (GRCm39)	L206F	probably damaging	Het
Pphln1	T	C	15: 93,386,856 (GRCm39)	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,075,973 (GRCm39)	T267I	probably damaging	Het
Pramel15	T	C	4: 144,103,727 (GRCm39)	D133G	probably benign	Het
Prpf8	A	C	11: 75,394,469 (GRCm39)	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,603,667 (GRCm39)		probably null	Het
Rasal3	C	A	17: 32,615,643 (GRCm39)	L374F	probably damaging	Het
S1pr3	T	A	13: 51,573,683 (GRCm39)	V288D	probably damaging	Het
Setd7	G	A	3: 51,428,886 (GRCm39)	P315S	probably benign	Het
Slx4	C	T	16: 3,809,404 (GRCm39)	A364T	probably benign	Het
Sp7	G	A	15: 102,267,749 (GRCm39)	T19I	probably benign	Het
Tlr9	T	A	9: 106,101,512 (GRCm39)	C268S	probably damaging	Het
Tmem117	T	A	15: 94,992,394 (GRCm39)	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,339,340 (GRCm39)	D211V	possibly damaging	Het
Tns3	A	G	11: 8,401,092 (GRCm39)	S1069P	probably benign	Het
Tsnax	A	G	8: 125,742,501 (GRCm39)	I77V	probably benign	Het
Txndc5	G	A	13: 38,697,101 (GRCm39)	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,684,548 (GRCm39)	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,490,943 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,193,117 (GRCm39)	D407E	probably benign	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Zfp109	A	T	7: 23,928,046 (GRCm39)	C462*	probably null	Het

Other mutations in Ighv1-20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02320:Ighv1-20	APN	12	114,687,463 (GRCm39)	missense	probably damaging	1.00
R2427:Ighv1-20	UTSW	12	114,687,692 (GRCm39)	synonymous	silent
R4274:Ighv1-20	UTSW	12	114,687,819 (GRCm39)	missense	probably damaging	1.00
R5778:Ighv1-20	UTSW	12	114,687,497 (GRCm39)	missense	probably benign	0.11
R6288:Ighv1-20	UTSW	12	114,687,519 (GRCm39)	missense	probably benign	0.09
R7318:Ighv1-20	UTSW	12	114,687,810 (GRCm39)	missense	possibly damaging	0.93
R8063:Ighv1-20	UTSW	12	114,687,405 (GRCm39)	missense	probably damaging	1.00
R8343:Ighv1-20	UTSW	12	114,687,810 (GRCm39)	missense	probably benign	0.00
R8381:Ighv1-20	UTSW	12	114,687,501 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAAATCTACAAGTGACACTTCTC -3'
(R):5'- TCTCTGAGGTTCAGCTGCAG -3'

Sequencing Primer
(F):5'- CTAAGTCTTGTCAGTCCCAAGGG -3'
(R):5'- TTCAGCTGCAGCAGTCTG -3'

Posted On

2016-10-06