Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Igkv4-80'

395594

Institutional Source

Beutler Lab

Gene Symbol

Igkv4-80

Ensembl Gene

ENSMUSG00000076540

Gene Name

immunoglobulin kappa variable 4-80

Synonyms

Gm16729

MMRRC Submission

042745-MU

Accession Numbers

Essential gene?

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

Stock #

R5164 (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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,583,793 (GRCm39)	H4637Q	probably benign	Het
Akap6	A	G	12: 53,189,249 (GRCm39)	H2221R	probably benign	Het
Arsj	A	T	3: 126,231,808 (GRCm39)	M185L	probably benign	Het
Ccdc177	T	C	12: 80,805,336 (GRCm39)	T313A	unknown	Het
Cdkal1	A	T	13: 29,809,702 (GRCm39)	L214H	probably damaging	Het
Cfap44	T	A	16: 44,301,752 (GRCm39)	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,965,675 (GRCm39)	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,884,160 (GRCm39)	I299N	probably damaging	Het
Cse1l	C	A	2: 166,786,348 (GRCm39)	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511 (GRCm39)	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,438 (GRCm39)	E3474D	probably benign	Het
Dock5	A	T	14: 68,055,110 (GRCm39)	Y585*	probably null	Het
Ebf2	T	C	14: 67,627,970 (GRCm39)	S322P	possibly damaging	Het
Epha8	T	C	4: 136,672,983 (GRCm39)	E267G	possibly damaging	Het
Fkbp5	A	G	17: 28,656,964 (GRCm39)		probably null	Het
Gbp4	T	A	5: 105,284,743 (GRCm39)	K49*	probably null	Het
Gramd4	A	T	15: 85,985,032 (GRCm39)	T98S	probably benign	Het
Hectd1	C	A	12: 51,874,272 (GRCm39)	M1I	probably null	Het
Hsd17b8	A	G	17: 34,245,952 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,574,597 (GRCm39)	T315A	probably benign	Het
Keg1	A	G	19: 12,692,044 (GRCm39)		probably benign	Het
Lilra6	A	T	7: 3,917,880 (GRCm39)	V88E	probably damaging	Het
Mast1	A	G	8: 85,640,147 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,759,011 (GRCm39)		probably null	Het
Nrdc	C	T	4: 108,896,914 (GRCm39)	T511I	probably damaging	Het
Odad4	G	A	11: 100,462,346 (GRCm39)	W506*	probably null	Het
Or4c106	T	A	2: 88,682,914 (GRCm39)	L207I	probably benign	Het
Or5p6	G	A	7: 107,631,487 (GRCm39)	T21I	possibly damaging	Het
Or8k24	T	C	2: 86,215,815 (GRCm39)	T316A	probably benign	Het
Pms1	A	G	1: 53,246,799 (GRCm39)	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237 (GRCm39)	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,815,098 (GRCm39)	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,435,715 (GRCm39)	C922S	probably damaging	Het
Ptprd	T	C	4: 76,018,995 (GRCm39)		probably null	Het
Runx3	T	C	4: 134,848,441 (GRCm39)	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,698,346 (GRCm39)	S168P	probably benign	Het
Slc14a2	G	A	18: 78,200,487 (GRCm39)	A722V	probably damaging	Het
Slc23a2	T	A	2: 131,917,370 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,243,886 (GRCm39)		probably null	Het
Tcf20	A	G	15: 82,740,804 (GRCm39)	S216P	probably damaging	Het
Tpst1	T	A	5: 130,130,842 (GRCm39)	I104N	probably damaging	Het
Ufm1	A	C	3: 53,765,348 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,432,083 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,038,543 (GRCm39)	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,237,677 (GRCm39)	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,648,875 (GRCm39)	S752R	probably benign	Het
Zfp268	T	C	4: 145,348,775 (GRCm39)	Y71H	probably 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
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
R5382: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

2016-06-21