Mutagenetix > Incidental Mutation

Incidental Mutation 'R6309:Ighv1-4'

509741

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-4

Ensembl Gene

ENSMUSG00000095442

Gene Name

immunoglobulin heavy variable 1-4

Synonyms

Gm16694

MMRRC Submission

044413-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

R6309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114450756-114451049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114451015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 31 (A31E)

Ref Sequence

ENSEMBL: ENSMUSP00000100274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103493]

AlphaFold

A0A075B5T4

Predicted Effect

probably benign
Transcript: ENSMUST00000103493
AA Change: A31E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: A31E

Domain	Start	End	E-Value	Type
IGv	36	117	4.98e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

92% (35/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,117,259 (GRCm39)		probably null	Het
Ak4	T	C	4: 101,320,859 (GRCm39)	Y223H	probably benign	Het
Cerk	T	C	15: 86,040,869 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Col18a1	A	G	10: 76,948,576 (GRCm39)		probably benign	Het
Cpeb3	T	G	19: 37,022,089 (GRCm39)	I569L	possibly damaging	Het
Dis3	A	T	14: 99,323,358 (GRCm39)	N569K	probably benign	Het
Erich5	T	C	15: 34,471,602 (GRCm39)	L277P	probably benign	Het
Fam171b	T	C	2: 83,690,804 (GRCm39)	S256P	probably damaging	Het
Glis3	A	G	19: 28,294,761 (GRCm39)	V679A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm8212	A	G	14: 44,438,636 (GRCm39)		probably benign	Het
Grin2b	T	A	6: 135,710,025 (GRCm39)	T1174S	probably benign	Het
Hipk2	T	C	6: 38,675,446 (GRCm39)	Y1045C	probably damaging	Het
Hsf2	C	T	10: 57,362,676 (GRCm39)		probably benign	Het
Il11ra1	A	G	4: 41,765,279 (GRCm39)	K151E	possibly damaging	Het
Inpp4b	T	A	8: 82,768,546 (GRCm39)	M685K	probably damaging	Het
Itga4	T	A	2: 79,109,429 (GRCm39)	D209E	probably damaging	Het
L1td1	T	C	4: 98,625,328 (GRCm39)	S508P	probably damaging	Het
Lrrn3	G	A	12: 41,503,205 (GRCm39)	R371C	probably damaging	Het
Nbeal1	A	G	1: 60,277,878 (GRCm39)	T755A	probably benign	Het
Odad2	A	G	18: 7,214,617 (GRCm39)	V728A	probably benign	Het
Or10al7	T	A	17: 38,366,043 (GRCm39)	Y138F	probably damaging	Het
Or2n1	T	C	17: 38,486,410 (GRCm39)	V145A	probably benign	Het
Phf24	A	G	4: 42,933,960 (GRCm39)	D14G	probably damaging	Het
Prkd1	A	T	12: 50,441,443 (GRCm39)	C314*	probably null	Het
Rnf187	A	T	11: 58,827,986 (GRCm39)	S155T	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Homo
Scn10a	A	G	9: 119,453,181 (GRCm39)	I1237T	possibly damaging	Het
Sec16a	T	C	2: 26,328,583 (GRCm39)	N1144S	probably benign	Het
Sh3tc2	T	C	18: 62,101,081 (GRCm39)	V58A	probably damaging	Het
Slc37a3	T	C	6: 39,334,394 (GRCm39)	*84W	probably null	Het
Trpm2	T	A	10: 77,774,202 (GRCm39)	I466F	probably damaging	Het
Vmn2r108	T	A	17: 20,691,660 (GRCm39)	I288F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,124 (GRCm39)	T271A	probably benign	Het
Vsig10l	A	G	7: 43,120,397 (GRCm39)		probably null	Het
Wdr95	A	G	5: 149,504,268 (GRCm39)		probably null	Het
Zfp960	T	C	17: 17,308,639 (GRCm39)	I451T	probably benign	Het

Other mutations in Ighv1-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02380:Ighv1-4	APN	12	114,450,753 (GRCm39)	unclassified	probably benign
IGL02661:Ighv1-4	APN	12	114,450,850 (GRCm39)	missense	probably damaging	1.00
IGL02736:Ighv1-4	APN	12	114,450,872 (GRCm39)	missense	probably benign	0.12
PIT4403001:Ighv1-4	UTSW	12	114,450,824 (GRCm39)	missense	probably damaging	0.99
R0066:Ighv1-4	UTSW	12	114,450,989 (GRCm39)	missense	possibly damaging	0.83
R2900:Ighv1-4	UTSW	12	114,450,788 (GRCm39)	missense	probably benign	0.28
R3014:Ighv1-4	UTSW	12	114,450,769 (GRCm39)	missense	possibly damaging	0.78
R4074:Ighv1-4	UTSW	12	114,451,147 (GRCm39)	missense	possibly damaging	0.52
R5505:Ighv1-4	UTSW	12	114,451,057 (GRCm39)	missense	possibly damaging	0.95
R6207:Ighv1-4	UTSW	12	114,451,142 (GRCm39)	critical splice donor site	probably benign
R7286:Ighv1-4	UTSW	12	114,450,941 (GRCm39)	missense	probably benign	0.03
R7299:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7300:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7917:Ighv1-4	UTSW	12	114,451,165 (GRCm39)	missense	possibly damaging	0.55
R8374:Ighv1-4	UTSW	12	114,450,899 (GRCm39)	missense	probably benign	0.12
R9010:Ighv1-4	UTSW	12	114,450,949 (GRCm39)	missense	possibly damaging	0.88
R9127:Ighv1-4	UTSW	12	114,450,879 (GRCm39)	nonsense	probably null
Z1177:Ighv1-4	UTSW	12	114,451,024 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATTTGTCTGCAGTCAATGTGGC -3'
(R):5'- AGTGTCCTCTCCACAGACAAAG -3'

Sequencing Primer
(F):5'- AATGTGGCCTTGTCCTTGAAC -3'
(R):5'- TCTGACTCAACATGGAAAGGC -3'

Posted On

2018-04-02