Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Igkv17-121'

651027

Institutional Source

Beutler Lab

Gene Symbol

Igkv17-121

Ensembl Gene

ENSMUSG00000076514

Gene Name

immunoglobulin kappa variable 17-121

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68013802-68014302 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68013806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2 (T2I)

Ref Sequence

ENSEMBL: ENSMUSP00000143096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103315] [ENSMUST00000197515]

AlphaFold

A0A075B5K3

Predicted Effect

unknown
Transcript: ENSMUST00000103315
AA Change: T2I

SMART Domains

Protein: ENSMUSP00000100116
Gene: ENSMUSG00000076514
AA Change: T2I

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
IGv	39	111	1.34e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000197515
AA Change: T2I

SMART Domains

Protein: ENSMUSP00000143096
Gene: ENSMUSG00000076514
AA Change: T2I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	112	5.6e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,515 (GRCm39)	I342N	probably damaging	Het
Alb	A	T	5: 90,619,932 (GRCm39)	N453I	possibly damaging	Het
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Ap1g1	C	T	8: 110,564,399 (GRCm39)	R315*	probably null	Het
Cachd1	T	C	4: 100,832,060 (GRCm39)	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,395,456 (GRCm39)	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,216,921 (GRCm39)	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,426,960 (GRCm39)	N582K	possibly damaging	Het
Cdh20	A	G	1: 109,921,835 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,963,342 (GRCm39)	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 104,915,307 (GRCm39)	V132A	probably damaging	Het
Cwc25	G	A	11: 97,644,044 (GRCm39)	Q230*	probably null	Het
Dsel	G	A	1: 111,787,449 (GRCm39)	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Fam120a	T	C	13: 49,055,750 (GRCm39)	Y646C	probably damaging	Het
Hltf	T	C	3: 20,146,968 (GRCm39)	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Ift122	A	G	6: 115,897,313 (GRCm39)	E904G	probably benign	Het
Ino80	T	G	2: 119,269,874 (GRCm39)	R590S	possibly damaging	Het
Intu	T	A	3: 40,652,069 (GRCm39)	I842N	probably damaging	Het
Itgae	A	T	11: 73,024,913 (GRCm39)	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna10	A	G	3: 107,101,663 (GRCm39)	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,780,837 (GRCm39)	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,564,676 (GRCm39)	I923V	probably benign	Het
Kptn	A	G	7: 15,859,697 (GRCm39)	D307G	probably damaging	Het
Myo3b	T	C	2: 70,083,458 (GRCm39)	Y704H	probably damaging	Het
Or12d13	A	G	17: 37,647,392 (GRCm39)	F244L	probably benign	Het
Or4c100	T	A	2: 88,356,014 (GRCm39)	L29*	probably null	Het
Or4c58	A	T	2: 89,674,611 (GRCm39)	C235*	probably null	Het
Or4f59	T	C	2: 111,872,523 (GRCm39)	T285A	possibly damaging	Het
Pmel	G	A	10: 128,551,819 (GRCm39)	V218M	probably damaging	Het
Prkar2b	T	C	12: 32,013,024 (GRCm39)	H364R	possibly damaging	Het
Psd4	T	C	2: 24,294,867 (GRCm39)	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,078,838 (GRCm39)	S59P		Het
Rgr	A	G	14: 36,766,645 (GRCm39)	F134L	probably benign	Het
Rspry1	G	T	8: 95,349,753 (GRCm39)	R47L	probably damaging	Het
Scd3	G	T	19: 44,222,688 (GRCm39)	E113*	probably null	Het
Slc22a12	G	A	19: 6,586,938 (GRCm39)	A476V	possibly damaging	Het
Smg1	T	C	7: 117,792,878 (GRCm39)	E560G	unknown	Het
Snx3	A	G	10: 42,378,346 (GRCm39)	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d12	A	G	19: 38,905,285 (GRCm39)	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,142,104 (GRCm39)	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,966,583 (GRCm39)	I395F	probably damaging	Het
Tes	C	A	6: 17,096,322 (GRCm39)	N103K	probably benign	Het
Tet2	T	C	3: 133,193,426 (GRCm39)	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,287,726 (GRCm39)	N491S	probably damaging	Het
Tomt	T	C	7: 101,549,554 (GRCm39)	I245V	probably damaging	Het
Trbc1	T	C	6: 41,515,236 (GRCm39)	L28P		Het
Trp63	T	C	16: 25,639,436 (GRCm39)	V208A	unknown	Het
Ttll8	G	T	15: 88,799,565 (GRCm39)	N625K	probably benign	Het
Ush2a	T	A	1: 188,132,135 (GRCm39)	W786R	probably benign	Het
Vmn2r97	A	T	17: 19,167,854 (GRCm39)	I703F	probably damaging	Het

Other mutations in Igkv17-121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01821:Igkv17-121	APN	6	68,013,848 (GRCm39)	missense	unknown
IGL03105:Igkv17-121	APN	6	68,014,284 (GRCm39)	missense	probably damaging	1.00
IGL03110:Igkv17-121	APN	6	68,013,851 (GRCm39)	missense	probably damaging	1.00
R4976:Igkv17-121	UTSW	6	68,014,068 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGTCATGTGAGTATCAGCTCAGC -3'
(R):5'- CAGTTGTTTCTGCCCTAGAATCTG -3'

Sequencing Primer
(F):5'- CTCAGCTGTGAAGAGACCCAATG -3'
(R):5'- CTGCCCTAGAATCTGTTTATGGAAG -3'

Posted On

2020-09-15