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

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113736111-113736630 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113736125 bp (GRCm38)

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: 88,759,093	R65L	unknown	Het
9930021J03Rik	A	C	19: 29,716,963	F1710C	possibly damaging	Het
Abcc5	A	T	16: 20,338,886	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,680,434	C129*	probably null	Het
Brox	A	T	1: 183,291,988	S39R	possibly damaging	Het
Cd109	T	C	9: 78,660,968	V310A	probably benign	Het
Chd9	G	A	8: 91,015,925		probably null	Het
Chmp2b	A	T	16: 65,540,430	I170N	probably damaging	Het
Cnp	G	T	11: 100,576,417	G62V	probably damaging	Het
Dcp2	C	A	18: 44,405,487	P206T	probably damaging	Het
Dhx57	A	T	17: 80,254,379	V902E	possibly damaging	Het
Dmwd	G	A	7: 19,080,438	V338M	probably damaging	Het
Eva1c	A	G	16: 90,904,251	D258G	probably benign	Het
Fam71e2	A	G	7: 4,758,450	V421A	probably damaging	Het
Flvcr2	T	A	12: 85,804,407	F448L	probably benign	Het
Gchfr	C	T	2: 119,169,706	H23Y	probably benign	Het
Gm11397	T	A	13: 33,404,318	D295E	probably benign	Het
Gm8251	C	G	1: 44,058,515	R1141T	possibly damaging	Het
Helz2	T	A	2: 181,230,126	M2617L	probably damaging	Het
Lrrtm3	A	G	10: 63,930,266	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,083,155		probably benign	Het
Obox5	A	T	7: 15,757,597	I21F	probably benign	Het
Olfr566	C	T	7: 102,857,207	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,340,561	I376V	possibly damaging	Het
Poli	A	G	18: 70,509,285	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,473,096	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,574,430	S220P	probably damaging	Het
Sf3b3	A	T	8: 110,838,215	D320E	probably benign	Het
Slc6a21	C	A	7: 45,288,429	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,703,295		probably null	Het
Sp1	T	A	15: 102,408,930	S295T	probably benign	Het
Tas2r104	T	A	6: 131,685,131	H205L	probably damaging	Het
Tmem69	C	G	4: 116,553,191	G194A	probably damaging	Het
Unc5c	G	T	3: 141,803,787	C676F	probably damaging	Het
Unkl	A	G	17: 25,205,713	N52S	probably benign	Het
Vmn1r233	T	C	17: 20,994,577	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,220,899	N141S	probably damaging	Het
Vmn2r50	T	C	7: 10,037,326	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 10,092,201	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	113736390	missense	probably damaging	1.00
R4921:Ighv5-9-1	UTSW	12	113736294	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113736157	missense	possibly damaging	0.70
R5678:Ighv5-9-1	UTSW	12	113736587	missense	possibly damaging	0.72
R7529:Ighv5-9-1	UTSW	12	113736334	missense	possibly damaging	0.91
R7618:Ighv5-9-1	UTSW	12	113736199	missense	probably damaging	0.99
R7791:Ighv5-9-1	UTSW	12	113736545	missense	probably damaging	0.99
R9272:Ighv5-9-1	UTSW	12	113736198	missense	probably damaging	1.00
R9331:Ighv5-9-1	UTSW	12	113736258	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113736120	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