Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01928:Ksr1'

180360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ksr1

Ensembl Gene

ENSMUSG00000018334

Gene Name

kinase suppressor of ras 1

Synonyms

D11Bhm183e, B-KSR1, D11Bhm184e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01928

Quality Score

Status

Chromosome

Chromosomal Location

78904266-79037233 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to C at 78935665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000129463] [ENSMUST00000141409] [ENSMUST00000208969] [ENSMUST00000226282]

AlphaFold

Q61097

Predicted Effect

probably null
Transcript: ENSMUST00000018478

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334

Domain	Start	End	E-Value	Type
low complexity region	8	31	N/A	INTRINSIC
Pfam:KSR1-SAM	39	166	2.7e-41	PFAM
low complexity region	271	278	N/A	INTRINSIC
C1	334	377	5.48e-8	SMART
low complexity region	429	464	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
Pfam:Pkinase_Tyr	563	827	2.3e-48	PFAM
Pfam:Pkinase	563	828	1.5e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108264

SMART Domains

Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334

Domain	Start	End	E-Value	Type
low complexity region	8	31	N/A	INTRINSIC
Pfam:KSR1-SAM	39	166	8.9e-51	PFAM
low complexity region	271	278	N/A	INTRINSIC
C1	334	377	5.48e-8	SMART
low complexity region	429	464	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
Pfam:Pkinase	563	637	1e-6	PFAM
Pfam:Pkinase_Tyr	563	637	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129463

SMART Domains

Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334

Domain	Start	End	E-Value	Type
Pfam:KSR1-SAM	1	46	5.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141409

SMART Domains

Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334

Domain	Start	End	E-Value	Type
Pfam:KSR1-SAM	35	84	1.6e-12	PFAM
low complexity region	189	196	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000208969

Predicted Effect

probably null
Transcript: ENSMUST00000226282

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,633,342 (GRCm39)	T5024S	probably benign	Het
Adam23	C	A	1: 63,596,605 (GRCm39)	N562K	probably damaging	Het
Brd9	G	A	13: 74,103,630 (GRCm39)	M503I	probably benign	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Erich6	T	C	3: 58,528,692 (GRCm39)	I519M	probably damaging	Het
Fscn3	A	G	6: 28,430,181 (GRCm39)	E117G	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm45234	A	G	6: 124,721,967 (GRCm39)		probably benign	Het
Ighv1-47	T	A	12: 114,954,913 (GRCm39)	M56L	probably benign	Het
Klf4	A	G	4: 55,530,949 (GRCm39)	L45P	probably benign	Het
L3mbtl3	T	C	10: 26,206,143 (GRCm39)	N341S	unknown	Het
Mfsd12	T	C	10: 81,201,622 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,074,847 (GRCm39)		probably benign	Het
Ntrk2	T	A	13: 58,994,665 (GRCm39)	C194S	probably damaging	Het
Olfm4	G	A	14: 80,249,392 (GRCm39)	V170I	possibly damaging	Het
Onecut1	C	A	9: 74,796,815 (GRCm39)	Q445K	possibly damaging	Het
Or8g22	A	C	9: 38,958,709 (GRCm39)	D46E	unknown	Het
Pak6	A	G	2: 118,520,345 (GRCm39)	Q112R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 79,011,270 (GRCm39)	E124K	probably damaging	Het
Snx14	T	C	9: 88,263,565 (GRCm39)	T893A	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag17	T	C	3: 99,847,390 (GRCm39)		probably benign	Het
Tgds	T	C	14: 118,353,541 (GRCm39)	T259A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zc3h12a	A	G	4: 125,013,779 (GRCm39)	S362P	probably benign	Het
Zfyve16	A	G	13: 92,641,006 (GRCm39)	I1246T	probably damaging	Het

Other mutations in Ksr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Ksr1	APN	11	78,918,343 (GRCm39)	missense	probably damaging	1.00
IGL01304:Ksr1	APN	11	78,918,468 (GRCm39)	missense	probably damaging	1.00
IGL01482:Ksr1	APN	11	78,927,409 (GRCm39)	missense	probably damaging	1.00
IGL02025:Ksr1	APN	11	78,912,276 (GRCm39)	splice site	probably null
IGL02176:Ksr1	APN	11	78,911,617 (GRCm39)	missense	probably benign	0.00
IGL02374:Ksr1	APN	11	78,919,317 (GRCm39)	missense	probably benign	0.02
IGL02511:Ksr1	APN	11	78,936,046 (GRCm39)	missense	possibly damaging	0.55
IGL02563:Ksr1	APN	11	78,935,684 (GRCm39)	missense	possibly damaging	0.73
IGL02662:Ksr1	APN	11	78,927,551 (GRCm39)	missense	probably damaging	1.00
IGL02823:Ksr1	APN	11	78,912,229 (GRCm39)	missense	probably benign	0.35
IGL02879:Ksr1	APN	11	78,965,270 (GRCm39)	missense	probably damaging	1.00
julius	UTSW	11	78,927,320 (GRCm39)	critical splice donor site	probably null
R0096:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0096:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0364:Ksr1	UTSW	11	78,919,851 (GRCm39)	splice site	probably benign
R0479:Ksr1	UTSW	11	78,916,109 (GRCm39)	missense	probably damaging	1.00
R0590:Ksr1	UTSW	11	78,935,966 (GRCm39)	missense	probably damaging	1.00
R0711:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0743:Ksr1	UTSW	11	78,912,329 (GRCm39)	missense	possibly damaging	0.79
R0884:Ksr1	UTSW	11	78,912,329 (GRCm39)	missense	possibly damaging	0.79
R1272:Ksr1	UTSW	11	79,036,904 (GRCm39)	nonsense	probably null
R1739:Ksr1	UTSW	11	78,938,131 (GRCm39)	missense	probably damaging	1.00
R1885:Ksr1	UTSW	11	78,927,347 (GRCm39)	missense	probably damaging	1.00
R1885:Ksr1	UTSW	11	78,911,204 (GRCm39)	missense	probably null
R1886:Ksr1	UTSW	11	78,911,204 (GRCm39)	missense	probably null
R2118:Ksr1	UTSW	11	78,936,019 (GRCm39)	missense	probably benign	0.10
R2127:Ksr1	UTSW	11	78,924,139 (GRCm39)	missense	probably damaging	1.00
R2939:Ksr1	UTSW	11	78,936,007 (GRCm39)	splice site	probably null
R4090:Ksr1	UTSW	11	78,918,303 (GRCm39)	missense	probably damaging	1.00
R4675:Ksr1	UTSW	11	78,965,186 (GRCm39)	missense	possibly damaging	0.81
R4854:Ksr1	UTSW	11	78,918,528 (GRCm39)	missense	probably damaging	1.00
R5267:Ksr1	UTSW	11	78,911,251 (GRCm39)	missense	probably damaging	1.00
R5813:Ksr1	UTSW	11	78,929,024 (GRCm39)	missense	probably damaging	1.00
R5928:Ksr1	UTSW	11	78,950,545 (GRCm39)	missense	probably damaging	0.96
R6199:Ksr1	UTSW	11	78,911,267 (GRCm39)	missense	possibly damaging	0.65
R6346:Ksr1	UTSW	11	78,910,490 (GRCm39)	missense	possibly damaging	0.93
R6377:Ksr1	UTSW	11	78,927,320 (GRCm39)	critical splice donor site	probably null
R6885:Ksr1	UTSW	11	78,938,121 (GRCm39)	critical splice donor site	probably null
R7016:Ksr1	UTSW	11	78,918,362 (GRCm39)	missense	probably damaging	1.00
R8803:Ksr1	UTSW	11	79,036,882 (GRCm39)	missense	probably benign	0.02
R8984:Ksr1	UTSW	11	78,931,709 (GRCm39)	missense	probably damaging	1.00
R8991:Ksr1	UTSW	11	78,936,014 (GRCm39)	missense	probably benign	0.01
R9056:Ksr1	UTSW	11	78,918,465 (GRCm39)	missense	possibly damaging	0.78
R9077:Ksr1	UTSW	11	78,927,552 (GRCm39)	missense	probably damaging	1.00
R9139:Ksr1	UTSW	11	78,911,572 (GRCm39)	missense	probably benign	0.00
R9308:Ksr1	UTSW	11	78,918,291 (GRCm39)	missense	probably damaging	1.00
R9447:Ksr1	UTSW	11	78,909,159 (GRCm39)	missense	unknown
R9455:Ksr1	UTSW	11	78,911,602 (GRCm39)	missense	possibly damaging	0.92
R9511:Ksr1	UTSW	11	78,924,094 (GRCm39)	missense	possibly damaging	0.95
U24488:Ksr1	UTSW	11	78,938,267 (GRCm39)	missense	probably damaging	1.00
Z1088:Ksr1	UTSW	11	78,935,705 (GRCm39)	splice site	probably null
Z1176:Ksr1	UTSW	11	78,918,426 (GRCm39)	missense	probably benign	0.04
Z1176:Ksr1	UTSW	11	78,911,577 (GRCm39)	missense	possibly damaging	0.53

Posted On

2014-05-07