Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Igkv4-80'

424780

Institutional Source

Beutler Lab

Gene Symbol

Igkv4-80

Ensembl Gene

ENSMUSG00000076540

Gene Name

immunoglobulin kappa variable 4-80

Synonyms

Gm16729

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68993542-68994064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68993649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 81 (S81A)

Ref Sequence

ENSEMBL: ENSMUSP00000100142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103341]

AlphaFold

A0A075B5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000103341
AA Change: S81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S81A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	1.7e-19	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
Arhgap32	A	T	9: 32,063,306 (GRCm39)	K105M	probably damaging	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Cluh	T	C	11: 74,555,935 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,151,385 (GRCm39)	D276V	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or5an11	A	T	19: 12,245,773 (GRCm39)	M60L	possibly damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	A	T	4: 140,458,521 (GRCm39)	V457E	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	Het

Other mutations in Igkv4-80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Igkv4-80	APN	6	68,993,816 (GRCm39)	missense	probably benign	0.01
IGL02630:Igkv4-80	APN	6	68,993,680 (GRCm39)	nonsense	probably null
IGL02711:Igkv4-80	APN	6	68,993,801 (GRCm39)	missense	probably damaging	1.00
IGL02934:Igkv4-80	APN	6	68,993,840 (GRCm39)	missense	probably benign	0.32
R4584:Igkv4-80	UTSW	6	68,993,720 (GRCm39)	missense	probably damaging	1.00
R4873:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4875:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4925:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4934:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4991:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4992:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5020:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5061:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5063:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5097:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5164:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5165:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5169:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5170:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5171:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5172:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5203:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5204:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5205:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5257:Igkv4-80	UTSW	6	68,993,811 (GRCm39)	missense	probably benign	0.01
R5258:Igkv4-80	UTSW	6	68,993,811 (GRCm39)	missense	probably benign	0.01
R5380:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5381:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5383:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5415:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5416:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R6778:Igkv4-80	UTSW	6	68,993,545 (GRCm39)	nonsense	probably null
R7385:Igkv4-80	UTSW	6	68,993,699 (GRCm39)	missense	probably damaging	1.00
R7507:Igkv4-80	UTSW	6	68,993,677 (GRCm39)	missense	probably benign	0.02
R7994:Igkv4-80	UTSW	6	68,993,621 (GRCm39)	missense	probably benign	0.04
R9323:Igkv4-80	UTSW	6	68,993,751 (GRCm39)	missense	probably damaging	1.00
R9439:Igkv4-80	UTSW	6	68,993,793 (GRCm39)	missense	probably benign	0.00
R9484:Igkv4-80	UTSW	6	68,993,766 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2016-08-04