Mutagenetix > Incidental Mutation

Incidental Mutation 'R7071:Khsrp'

548923

Institutional Source

Beutler Lab

Gene Symbol

Khsrp

Ensembl Gene

ENSMUSG00000007670

Gene Name

KH-type splicing regulatory protein

Synonyms

6330409F21Rik, KSRP

MMRRC Submission

045167-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57328049-57338507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57332386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 268 (M268I)

Ref Sequence

ENSEMBL: ENSMUSP00000007814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007814] [ENSMUST00000210548]

AlphaFold

Q3U0V1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007814
AA Change: M268I

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: M268I

Domain	Start	End	E-Value	Type
low complexity region	7	69	N/A	INTRINSIC
KH	144	214	1.46e-18	SMART
KH	233	305	2.46e-16	SMART
KH	322	392	7.87e-15	SMART
KH	424	497	3.29e-17	SMART
low complexity region	498	547	N/A	INTRINSIC
low complexity region	557	579	N/A	INTRINSIC
Pfam:DUF1897	610	636	1.8e-8	PFAM
Pfam:DUF1897	666	688	8.5e-10	PFAM
low complexity region	691	710	N/A	INTRINSIC
low complexity region	717	727	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210548

Meta Mutation Damage Score

0.7255

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (41/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to HSV-1 infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,449,503 (GRCm39)	Q854*	probably null	Het
Arl2bp	G	T	8: 95,393,794 (GRCm39)		probably benign	Het
Astl	T	C	2: 127,187,885 (GRCm39)	M121T	probably benign	Het
Atrip	T	C	9: 108,896,082 (GRCm39)		probably null	Het
Camk1g	A	T	1: 193,042,117 (GRCm39)	V44E	probably benign	Het
Cc2d2a	A	G	5: 43,866,455 (GRCm39)	H804R	probably benign	Het
Cd300a	T	C	11: 114,792,099 (GRCm39)	S314P	probably damaging	Het
Ceacam5	A	T	7: 17,484,577 (GRCm39)	I440L	possibly damaging	Het
Cfap61	T	G	2: 145,843,832 (GRCm39)	I306R	probably benign	Het
Cnot10	T	C	9: 114,446,787 (GRCm39)		probably null	Het
Cntln	T	A	4: 85,018,622 (GRCm39)	L76Q	probably damaging	Het
Cobl	A	G	11: 12,204,795 (GRCm39)	C636R	probably benign	Het
Dnm3	A	T	1: 161,847,412 (GRCm39)	H148Q	probably damaging	Het
Dot1l	T	A	10: 80,628,079 (GRCm39)	L1039Q	probably benign	Het
Faiml	T	A	9: 99,118,400 (GRCm39)	M1L	unknown	Het
Fat1	T	G	8: 45,442,145 (GRCm39)	I1149S	possibly damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm11938	A	T	11: 99,493,910 (GRCm39)	C62S	probably damaging	Het
Gtf2i	A	G	5: 134,292,475 (GRCm39)	L423S	probably damaging	Het
Hmcn1	A	T	1: 150,479,853 (GRCm39)	C4582S	probably damaging	Het
Ifitm3	A	G	7: 140,590,437 (GRCm39)	V41A	probably benign	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Lrp1b	T	G	2: 41,298,276 (GRCm39)	D1036A		Het
Mecom	T	G	3: 30,034,857 (GRCm39)	H273P	probably damaging	Het
Mfn1	G	A	3: 32,622,544 (GRCm39)	V601I	probably benign	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Myo18a	A	G	11: 77,714,653 (GRCm39)	T811A	probably damaging	Het
Ndfip2	A	C	14: 105,539,760 (GRCm39)	N292H	possibly damaging	Het
Or2ak5	C	A	11: 58,610,984 (GRCm39)	V297F	possibly damaging	Het
Otog	T	A	7: 45,916,747 (GRCm39)	C895S	probably damaging	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pira13	A	G	7: 3,824,667 (GRCm39)	S573P	unknown	Het
Ptprn	A	T	1: 75,237,263 (GRCm39)	M113K	possibly damaging	Het
Rag1	T	C	2: 101,473,807 (GRCm39)	H445R	probably damaging	Het
Ranbp2	T	G	10: 58,328,659 (GRCm39)	F2853V	probably damaging	Het
Skint5	A	T	4: 113,636,277 (GRCm39)	F647Y	unknown	Het
Stt3b	T	C	9: 115,083,085 (GRCm39)	Y449C	probably damaging	Het
Ythdc2	A	G	18: 44,978,855 (GRCm39)	D455G	probably benign	Het
Zfp451	A	C	1: 33,815,825 (GRCm39)	D708E	possibly damaging	Het
Zfp456	T	C	13: 67,520,896 (GRCm39)	E33G	probably damaging	Het
Zfp599	T	C	9: 22,169,392 (GRCm39)	T27A	probably benign	Het

Other mutations in Khsrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Khsrp	APN	17	57,330,092 (GRCm39)	missense	possibly damaging	0.49
R0973:Khsrp	UTSW	17	57,332,576 (GRCm39)	missense	probably benign
R0973:Khsrp	UTSW	17	57,332,576 (GRCm39)	missense	probably benign
R0974:Khsrp	UTSW	17	57,332,576 (GRCm39)	missense	probably benign
R0975:Khsrp	UTSW	17	57,334,066 (GRCm39)	missense	possibly damaging	0.68
R1080:Khsrp	UTSW	17	57,331,410 (GRCm39)	frame shift	probably null
R1561:Khsrp	UTSW	17	57,332,639 (GRCm39)	missense	probably benign	0.01
R1686:Khsrp	UTSW	17	57,332,597 (GRCm39)	missense	probably benign	0.32
R2133:Khsrp	UTSW	17	57,334,832 (GRCm39)	missense	probably benign	0.17
R2134:Khsrp	UTSW	17	57,331,410 (GRCm39)	frame shift	probably null
R4133:Khsrp	UTSW	17	57,332,605 (GRCm39)	missense	probably benign	0.00
R4819:Khsrp	UTSW	17	57,330,360 (GRCm39)	missense	possibly damaging	0.93
R5213:Khsrp	UTSW	17	57,331,366 (GRCm39)	missense	probably benign	0.17
R5372:Khsrp	UTSW	17	57,331,292 (GRCm39)	missense	possibly damaging	0.95
R6246:Khsrp	UTSW	17	57,332,324 (GRCm39)	missense	possibly damaging	0.45
R6528:Khsrp	UTSW	17	57,330,543 (GRCm39)	missense	probably damaging	0.99
R7141:Khsrp	UTSW	17	57,332,602 (GRCm39)	missense	possibly damaging	0.85
R8282:Khsrp	UTSW	17	57,331,123 (GRCm39)	missense	probably damaging	0.98
R9393:Khsrp	UTSW	17	57,330,350 (GRCm39)	missense	probably damaging	1.00
R9759:Khsrp	UTSW	17	57,332,925 (GRCm39)	missense	probably benign	0.25
Z1088:Khsrp	UTSW	17	57,331,249 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCTGCAAAATGCCTTACAGAG -3'
(R):5'- GTGCAGGAGATCATGATCCC -3'

Sequencing Primer
(F):5'- TTTTCACCCTGGGCAAGAG -3'
(R):5'- AGATCATGATCCCTGCTGGCAAG -3'

Posted On

2019-05-15