Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Ksr1'

184115

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 #

IGL02025

Quality Score

Status

Chromosome

Chromosomal Location

78904266-79037233 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78912276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000226282]

AlphaFold

Q61097

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018478
AA Change: N693S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: N693S

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

noncoding transcript
Transcript: ENSMUST00000143473

Predicted Effect

probably null
Transcript: ENSMUST00000209031

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226282
AA Change: N611S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,866,770 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,187,118 (GRCm39)	T1511A	probably benign	Het
Casp8	A	C	1: 58,863,306 (GRCm39)	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,220,922 (GRCm39)	E1274G	probably damaging	Het
Cfap47	A	T	X: 78,554,036 (GRCm39)	S230R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Depdc5	A	G	5: 33,103,976 (GRCm39)		probably null	Het
Dock5	A	G	14: 68,000,736 (GRCm39)	S1656P	probably damaging	Het
Dock6	A	G	9: 21,720,885 (GRCm39)	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,354,228 (GRCm39)	V72D	probably damaging	Het
Etl4	A	G	2: 20,811,337 (GRCm39)	D1508G	probably damaging	Het
Gm20489	A	C	X: 100,307,290 (GRCm39)	V21G	probably damaging	Het
Il16	T	C	7: 83,302,056 (GRCm39)	N22S	probably damaging	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Neb	T	C	2: 52,197,751 (GRCm39)	T501A	probably benign	Het
Npnt	A	C	3: 132,596,523 (GRCm39)		probably null	Het
Nr1h5	G	A	3: 102,856,942 (GRCm39)		probably benign	Het
Opalin	T	C	19: 41,060,674 (GRCm39)		probably benign	Het
Or10ak9	G	A	4: 118,726,362 (GRCm39)	C127Y	probably damaging	Het
Or2w6	A	G	13: 21,843,433 (GRCm39)	V20A	possibly damaging	Het
Or9s13	A	G	1: 92,548,269 (GRCm39)	I214V	probably benign	Het
Pls3	A	T	X: 74,840,101 (GRCm39)	L341H	probably damaging	Het
Pnp2	T	A	14: 51,197,010 (GRCm39)	L32H	probably damaging	Het
Prpf40b	T	C	15: 99,212,469 (GRCm39)	F571S	probably damaging	Het
Prss16	A	G	13: 22,187,191 (GRCm39)	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,073,008 (GRCm39)	S619P	probably benign	Het
Sirpb1b	C	T	3: 15,613,863 (GRCm39)	R73Q	probably damaging	Het
Slc22a8	G	A	19: 8,571,539 (GRCm39)	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713 (GRCm39)	R366W	probably damaging	Het
Tns2	T	A	15: 102,020,484 (GRCm39)	Y783*	probably null	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp7	C	T	15: 76,772,464 (GRCm39)	S55F	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
IGL01928:Ksr1	APN	11	78,935,665 (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