Mutagenetix > Incidental Mutation

Incidental Mutation 'R4386:Ighv6-5'

326237

Institutional Source

Beutler Lab

Gene Symbol

Ighv6-5

Ensembl Gene

ENSMUSG00000096407

Gene Name

immunoglobulin heavy variable V6-5

Synonyms

MMRRC Submission

041680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R4386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114380216-114380515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114380337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 79 (T79I)

Ref Sequence

ENSEMBL: ENSMUSP00000141679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179796] [ENSMUST00000193936]

AlphaFold

J3QK03

Predicted Effect

probably benign
Transcript: ENSMUST00000179796
AA Change: T60I

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136790
Gene: ENSMUSG00000096407
AA Change: T60I

Domain	Start	End	E-Value	Type
IGv	17	99	9.45e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193936
AA Change: T79I

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141679
Gene: ENSMUSG00000096407
AA Change: T79I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	119	3.4e-29	SMART

Meta Mutation Damage Score

0.1342

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,379,982 (GRCm39)		probably null	Het
Acsm3	G	T	7: 119,373,094 (GRCm39)	W199L	probably damaging	Het
Arap1	T	A	7: 101,034,778 (GRCm39)	D236E	probably benign	Het
Arhgap1	T	C	2: 91,498,582 (GRCm39)	Y160H	probably damaging	Het
Arid1b	A	G	17: 5,045,247 (GRCm39)		probably benign	Het
Cdc25a	A	G	9: 109,718,801 (GRCm39)	E334G	probably damaging	Het
Ciz1	C	T	2: 32,260,111 (GRCm39)	T219M	possibly damaging	Het
Cluap1	A	C	16: 3,751,586 (GRCm39)	D315A	possibly damaging	Het
Cps1	T	C	1: 67,210,154 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,434,856 (GRCm39)	S668P	probably damaging	Het
Fah	T	A	7: 84,248,344 (GRCm39)	T125S	probably damaging	Het
Fam221a	G	A	6: 49,355,366 (GRCm39)	C156Y	probably damaging	Het
Gm6158	G	T	14: 24,120,362 (GRCm39)		noncoding transcript	Het
Hbq1b	T	A	11: 32,237,295 (GRCm39)	V63E	probably damaging	Het
Kif12	G	A	4: 63,089,455 (GRCm39)	T99M	probably damaging	Het
Kif1a	T	A	1: 92,996,272 (GRCm39)	K298M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Marchf4	G	A	1: 72,467,973 (GRCm39)	P353L	probably benign	Het
Nadk	A	T	4: 155,667,032 (GRCm39)		probably benign	Het
Ncoa2	T	C	1: 13,247,389 (GRCm39)	T345A	probably damaging	Het
Niban3	A	G	8: 72,060,155 (GRCm39)		probably benign	Het
Nsun6	T	A	2: 15,001,333 (GRCm39)	M408L	probably benign	Het
Nuak1	T	A	10: 84,229,908 (GRCm39)	E155V	probably damaging	Het
Oosp1	C	T	19: 11,645,158 (GRCm39)	V169I	possibly damaging	Het
Or13c7c	C	T	4: 43,836,124 (GRCm39)	R122H	probably benign	Het
Or2t26	T	A	11: 49,039,842 (GRCm39)	Y253N	probably damaging	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Or5p81	T	A	7: 108,267,460 (GRCm39)	V279E	probably damaging	Het
Pabpc2	T	C	18: 39,908,238 (GRCm39)	V501A	probably benign	Het
Pik3c2a	A	G	7: 115,953,334 (GRCm39)	V1187A	probably damaging	Het
Pkhd1	A	G	1: 20,484,516 (GRCm39)	V2013A	probably benign	Het
Psmd1	T	A	1: 86,055,914 (GRCm39)	S759T	possibly damaging	Het
Scgb1b2	T	A	7: 30,990,089 (GRCm39)	K86N	possibly damaging	Het
Sdk1	T	C	5: 142,080,381 (GRCm39)	I1291T	probably damaging	Het
Skint5	T	C	4: 113,341,090 (GRCm39)	Y1396C	probably benign	Het
Slc24a3	A	G	2: 145,448,746 (GRCm39)	E380G	probably benign	Het
Spock1	A	G	13: 57,588,263 (GRCm39)	S270P	probably damaging	Het
Tmem128	T	C	5: 38,419,418 (GRCm39)	S57P	probably damaging	Het
Tmem186	G	A	16: 8,453,887 (GRCm39)	R125W	probably benign	Het
Tnfaip3	A	G	10: 18,882,758 (GRCm39)	S220P	probably damaging	Het
Usp45	T	C	4: 21,830,505 (GRCm39)		probably null	Het
Usp5	C	T	6: 124,795,437 (GRCm39)		probably null	Het
Vmn1r35	A	T	6: 66,656,573 (GRCm39)	C32*	probably null	Het
Vmn2r112	T	A	17: 22,820,303 (GRCm39)	F59I	probably benign	Het
Wfdc9	A	T	2: 164,492,458 (GRCm39)	S56R	probably benign	Het
Zfp369	A	G	13: 65,444,806 (GRCm39)	I650V	probably benign	Het

Other mutations in Ighv6-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02532:Ighv6-5	APN	12	114,380,424 (GRCm39)	missense	probably benign	0.04
IGL02928:Ighv6-5	APN	12	114,380,412 (GRCm39)	missense	probably benign	0.42
IGL03117:Ighv6-5	APN	12	114,380,320 (GRCm39)	missense	possibly damaging	0.95
IGL02991:Ighv6-5	UTSW	12	114,380,315 (GRCm39)	missense	probably benign
R0020:Ighv6-5	UTSW	12	114,380,241 (GRCm39)	missense	probably null	1.00
R5067:Ighv6-5	UTSW	12	114,380,191 (GRCm39)	splice site	probably null
R6154:Ighv6-5	UTSW	12	114,380,362 (GRCm39)	missense	probably benign	0.04
R7133:Ighv6-5	UTSW	12	114,380,395 (GRCm39)	missense	probably benign	0.00
R7617:Ighv6-5	UTSW	12	114,380,626 (GRCm39)	critical splice donor site	probably benign
R8047:Ighv6-5	UTSW	12	114,380,191 (GRCm39)	splice site	probably null
R8986:Ighv6-5	UTSW	12	114,380,382 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCATGGCTACTGTGCTC -3'
(R):5'- TTCAGGTGTCCAGAGTGAAGTG -3'

Sequencing Primer
(F):5'- ATGGCTACTGTGCTCCCACTAG -3'
(R):5'- TGTCCAGAGTGAAGTGAAAATTG -3'

Posted On

2015-07-06