Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Ighv5-8'

573912

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-8

Ensembl Gene

ENSMUSG00000103262

Gene Name

immunoglobulin heavy variable V5-8

Synonyms

Gm17309

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7397 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

113618587-113618865 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TATATATATATATATATATATA to TATATATATATATATATATATATA at 113618565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103447] [ENSMUST00000166255]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103447

SMART Domains

Protein: ENSMUSP00000100228
Gene: ENSMUSG00000095866

Domain	Start	End	E-Value	Type
IGv	36	116	1.19e-28	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166255

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Ighv5-8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4675:Ighv5-8	UTSW	12	113,618,777 (GRCm39)	missense	probably benign	0.29
R4763:Ighv5-8	UTSW	12	113,617,161 (GRCm39)	missense	probably damaging	1.00
R6258:Ighv5-8	UTSW	12	113,618,611 (GRCm39)	missense	possibly damaging	0.66
R7253:Ighv5-8	UTSW	12	113,618,728 (GRCm39)	missense	probably benign	0.00
R7949:Ighv5-8	UTSW	12	113,618,563 (GRCm39)	frame shift	probably null
R8394:Ighv5-8	UTSW	12	113,618,813 (GRCm39)	missense	unknown
R8395:Ighv5-8	UTSW	12	113,618,813 (GRCm39)	missense	unknown
R8396:Ighv5-8	UTSW	12	113,618,813 (GRCm39)	missense	unknown
R8678:Ighv5-8	UTSW	12	113,618,583 (GRCm39)	small deletion	probably benign
R9076:Ighv5-8	UTSW	12	113,618,583 (GRCm39)	small deletion	probably benign
R9173:Ighv5-8	UTSW	12	113,618,681 (GRCm39)	missense	probably benign	0.16
R9269:Ighv5-8	UTSW	12	113,618,565 (GRCm39)	frame shift	probably null
R9362:Ighv5-8	UTSW	12	113,616,940 (GRCm39)	missense	probably benign	0.03
Z1188:Ighv5-8	UTSW	12	113,618,569 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCAATCTTCAGAGCCTGTG -3'
(R):5'- GAATGACCTGGGTCCTTCAG -3'

Sequencing Primer
(F):5'- GCCTGTGGCTCTGGTTC -3'
(R):5'- TCCTTCAGGCTCCAAGGAAG -3'

Posted On

2019-09-13