Mutagenetix > Incidental Mutation

Incidental Mutation 'R5067:Ighv6-5'

388383

Institutional Source

Beutler Lab

Gene Symbol

Ighv6-5

Ensembl Gene

ENSMUSG00000096407

Gene Name

immunoglobulin heavy variable V6-5

Synonyms

MMRRC Submission

042657-MU

Accession Numbers

Essential gene?

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

Stock #

R5067 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114380216-114380515 bp(-) (GRCm39)

Type of Mutation

splice site (28 bp from exon)

DNA Base Change (assembly)

T to C at 114380191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136790 (fasta)

Gene Model

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

AlphaFold

J3QK03

Predicted Effect

probably null
Transcript: ENSMUST00000179796

SMART Domains

Protein: ENSMUSP00000136790
Gene: ENSMUSG00000096407

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193936

SMART Domains

Protein: ENSMUSP00000141679
Gene: ENSMUSG00000096407

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	C	12: 112,748,936 (GRCm39)	N304D	probably benign	Het
Akr7a5	T	C	4: 139,038,333 (GRCm39)	S90P	probably damaging	Het
Aplnr	T	A	2: 84,967,128 (GRCm39)	V51E	probably damaging	Het
Arhgap21	A	T	2: 20,884,848 (GRCm39)	H776Q	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bsn	T	A	9: 107,989,152 (GRCm39)	Y2200F	probably damaging	Het
Btbd10	A	T	7: 112,925,043 (GRCm39)	D268E	probably damaging	Het
Cacna1h	T	C	17: 25,616,782 (GRCm39)	N113D	probably damaging	Het
Cfap54	T	C	10: 92,902,628 (GRCm39)	N175D	probably benign	Het
Cfap61	A	G	2: 145,943,956 (GRCm39)	D134G	probably damaging	Het
Clybl	A	T	14: 122,616,701 (GRCm39)	I239L	possibly damaging	Het
Defb11	A	T	8: 22,396,352 (GRCm39)	F15Y	probably damaging	Het
Dlc1	A	G	8: 37,051,647 (GRCm39)	S695P	probably benign	Het
Fbxl5	T	C	5: 43,916,114 (GRCm39)	K432E	probably benign	Het
Fryl	T	C	5: 73,215,098 (GRCm39)	E2226G	probably benign	Het
Gm10337	T	A	15: 102,412,306 (GRCm39)		probably null	Het
Gm5828	A	G	1: 16,839,516 (GRCm39)		noncoding transcript	Het
Gm8674	A	T	13: 50,053,870 (GRCm39)		noncoding transcript	Het
Insyn2a	A	T	7: 134,520,284 (GRCm39)	V82E	probably benign	Het
Ints14	C	A	9: 64,871,694 (GRCm39)	L11M	probably damaging	Het
Kcp	G	A	6: 29,492,107 (GRCm39)	P153L	probably benign	Het
Lrrk2	A	C	15: 91,649,993 (GRCm39)	N1710T	probably benign	Het
Marchf10	T	A	11: 105,280,933 (GRCm39)	T451S	possibly damaging	Het
Mcf2l	T	G	8: 12,965,959 (GRCm39)		probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Neurod2	T	A	11: 98,218,063 (GRCm39)	H367L	possibly damaging	Het
Nfatc4	A	T	14: 56,069,875 (GRCm39)	Q681L	probably damaging	Het
Nkx3-2	T	C	5: 41,919,220 (GRCm39)	N256S	probably damaging	Het
Ntng1	G	A	3: 110,042,661 (GRCm39)	T55M	possibly damaging	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Syt7	T	C	19: 10,420,222 (GRCm39)	V382A	possibly damaging	Het
Trim72	T	C	7: 127,609,139 (GRCm39)	S314P	possibly damaging	Het
Ttc41	T	C	10: 86,580,408 (GRCm39)	S785P	probably damaging	Het
Ube2z	C	T	11: 95,953,835 (GRCm39)	V128I	probably benign	Het
Vps26c	T	A	16: 94,327,263 (GRCm39)		probably benign	Het
Wdr43	T	C	17: 71,933,849 (GRCm39)	Y149H	probably benign	Het
Wnk4	T	A	11: 101,153,682 (GRCm39)	V248E	probably damaging	Het
Zcchc2	A	T	1: 105,958,694 (GRCm39)	N1055I	probably damaging	Het
Zdhhc23	T	C	16: 43,794,134 (GRCm39)	Y180C	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
R4386:Ighv6-5	UTSW	12	114,380,337 (GRCm39)	missense	possibly damaging	0.84
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

Posted On

2016-06-06