Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Ighv5-9-1'

436469

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113699733-113700026 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113699745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 122 (Y122*)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

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

AlphaFold

A0A075B5Q6

Predicted Effect

probably null
Transcript: ENSMUST00000103452
AA Change: Y112*

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: Y112*

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

Predicted Effect

probably null
Transcript: ENSMUST00000192264
AA Change: Y122*

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: Y122*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,555,981 (GRCm39)	R65L	unknown	Het
Abcc5	A	T	16: 20,157,636 (GRCm39)	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,522,354 (GRCm39)	C129*	probably null	Het
Brd10	A	C	19: 29,694,363 (GRCm39)	F1710C	possibly damaging	Het
Brox	A	T	1: 183,073,552 (GRCm39)	S39R	possibly damaging	Het
Ccdc168	C	G	1: 44,097,675 (GRCm39)	R1141T	possibly damaging	Het
Cd109	T	C	9: 78,568,250 (GRCm39)	V310A	probably benign	Het
Chd9	G	A	8: 91,742,553 (GRCm39)		probably null	Het
Chmp2b	A	T	16: 65,337,316 (GRCm39)	I170N	probably damaging	Het
Cnp	G	T	11: 100,467,243 (GRCm39)	G62V	probably damaging	Het
Dcp2	C	A	18: 44,538,554 (GRCm39)	P206T	probably damaging	Het
Dhx57	A	T	17: 80,561,808 (GRCm39)	V902E	possibly damaging	Het
Dmwd	G	A	7: 18,814,363 (GRCm39)	V338M	probably damaging	Het
Eva1c	A	G	16: 90,701,139 (GRCm39)	D258G	probably benign	Het
Flvcr2	T	A	12: 85,851,181 (GRCm39)	F448L	probably benign	Het
Garin5b	A	G	7: 4,761,449 (GRCm39)	V421A	probably damaging	Het
Gchfr	C	T	2: 119,000,187 (GRCm39)	H23Y	probably benign	Het
Helz2	T	A	2: 180,871,919 (GRCm39)	M2617L	probably damaging	Het
Lrrtm3	A	G	10: 63,766,045 (GRCm39)	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Obox5	A	T	7: 15,491,522 (GRCm39)	I21F	probably benign	Het
Or51f1	C	T	7: 102,506,414 (GRCm39)	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,488,427 (GRCm39)	I376V	possibly damaging	Het
Poli	A	G	18: 70,642,356 (GRCm39)	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,450,078 (GRCm39)	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,483 (GRCm39)	S220P	probably damaging	Het
Serpinb9h	T	A	13: 33,588,301 (GRCm39)	D295E	probably benign	Het
Sf3b3	A	T	8: 111,564,847 (GRCm39)	D320E	probably benign	Het
Slc6a21	C	A	7: 44,937,853 (GRCm39)	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,601,176 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,317,365 (GRCm39)	S295T	probably benign	Het
Tas2r104	T	A	6: 131,662,094 (GRCm39)	H205L	probably damaging	Het
Tmem69	C	G	4: 116,410,388 (GRCm39)	G194A	probably damaging	Het
Unc5c	G	T	3: 141,509,548 (GRCm39)	C676F	probably damaging	Het
Unkl	A	G	17: 25,424,687 (GRCm39)	N52S	probably benign	Het
Vmn1r233	T	C	17: 21,214,839 (GRCm39)	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,898 (GRCm39)	N141S	probably damaging	Het
Vmn2r50	T	C	7: 9,771,253 (GRCm39)	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 9,826,128 (GRCm39)	S540C	probably damaging	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
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
R7618:Ighv5-9-1	UTSW	12	113,699,819 (GRCm39)	missense	probably damaging	0.99
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'- CCCTCCATTACCCCAAGGACTTT -3'
(R):5'- CGCCAGACTCCAGAGAAGA -3'

Sequencing Primer
(F):5'- GTGCCTGCCTATGAGATAGATCC -3'
(R):5'- AGGCTGGAGTGGGTCGC -3'

Posted On

2016-10-24