Mutagenetix > Incidental Mutation

Incidental Mutation 'R1272:Ksr1'

151350

Institutional Source

Beutler Lab

Gene Symbol

Ksr1

Ensembl Gene

ENSMUSG00000018334

Gene Name

kinase suppressor of ras 1

Synonyms

D11Bhm183e, B-KSR1, D11Bhm184e

MMRRC Submission

039338-MU

Accession Numbers

Essential gene?

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

Stock #

R1272 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

78904266-79037233 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 79036904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 68 (Q68*)

Ref Sequence

ENSEMBL: ENSMUSP00000103899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264]

AlphaFold

Q61097

Predicted Effect

probably null
Transcript: ENSMUST00000018478
AA Change: Q68*

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: Q68*

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
AA Change: Q68*

SMART Domains

Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: Q68*

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,313,977 (GRCm39)	L567P	probably damaging	Het
Aldh3b1	A	G	19: 3,971,746 (GRCm39)	L75P	probably damaging	Het
Ap1m2	A	T	9: 21,217,006 (GRCm39)	V110E	possibly damaging	Het
Bzw1	T	C	1: 58,436,979 (GRCm39)	L70P	probably damaging	Het
Cacna1e	T	C	1: 154,320,714 (GRCm39)	K1347R	probably damaging	Het
Cd320	T	C	17: 34,067,138 (GRCm39)	V209A	possibly damaging	Het
Cmya5	T	C	13: 93,231,620 (GRCm39)	E1156G	possibly damaging	Het
Dop1a	A	G	9: 86,403,477 (GRCm39)	D1559G	probably damaging	Het
Kel	A	T	6: 41,680,404 (GRCm39)	W19R	probably benign	Het
Leo1	G	A	9: 75,357,795 (GRCm39)	D397N	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mapre3	T	A	5: 31,019,232 (GRCm39)	N25K	probably damaging	Het
Mki67	T	A	7: 135,302,143 (GRCm39)	K964*	probably null	Het
Nav3	G	C	10: 109,572,860 (GRCm39)	H1600D	probably damaging	Het
Rdh10	C	A	1: 16,178,240 (GRCm39)	H171N	probably damaging	Het
Ric8a	T	C	7: 140,442,289 (GRCm39)	M513T	probably benign	Het
Rnf20	A	G	4: 49,651,496 (GRCm39)	E654G	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfcp2l1	C	A	1: 118,560,043 (GRCm39)	P45Q	probably damaging	Het
Usp54	C	T	14: 20,611,178 (GRCm39)	V1213I	probably damaging	Het
Zfp616	A	T	11: 73,976,062 (GRCm39)	Q777L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGTGAGAGCTGGTCGTAGGTCC -3'
(R):5'- GCTGTCGCTTAAAGGCTCCAACAAC -3'

Sequencing Primer
(F):5'- TCGTAGGTCCTCACGCTG -3'
(R):5'- ACTGGGCAGCAGGCTTTC -3'

Posted On

2014-01-29