Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Khsrp'

553370

Institutional Source

Beutler Lab

Gene Symbol

Khsrp

Ensembl Gene

ENSMUSG00000007670

Gene Name

KH-type splicing regulatory protein

Synonyms

6330409F21Rik, KSRP

MMRRC Submission

045221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57328049-57338507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57332602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 226 (D226G)

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: D226G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: D226G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	C	1: 74,323,270 (GRCm39)		probably null	Het
Abhd10	C	T	16: 45,563,169 (GRCm39)	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,640,620 (GRCm39)	Y3369H	probably benign	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Apba3	A	G	10: 81,108,889 (GRCm39)	I551V	probably damaging	Het
Appbp2	A	T	11: 85,082,577 (GRCm39)	Y551*	probably null	Het
Btbd17	T	C	11: 114,682,641 (GRCm39)	N357S	possibly damaging	Het
Casp2	T	C	6: 42,257,329 (GRCm39)	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,839,633 (GRCm39)	N35D	probably benign	Het
Cep350	G	T	1: 155,790,494 (GRCm39)	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,992,886 (GRCm39)	C243R	probably damaging	Het
Chst4	A	T	8: 110,757,471 (GRCm39)	S131T	probably damaging	Het
Cox15	T	C	19: 43,725,186 (GRCm39)	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,467 (GRCm39)	R1467H	probably benign	Het
Dock8	A	G	19: 25,158,984 (GRCm39)	D1714G	probably null	Het
Erbb2	G	T	11: 98,318,135 (GRCm39)	R457L	probably damaging	Het
Esyt3	T	C	9: 99,203,493 (GRCm39)	N463S	probably benign	Het
Fam171a1	C	T	2: 3,226,189 (GRCm39)	Q441*	probably null	Het
Fam186b	T	A	15: 99,181,773 (GRCm39)	M142L	probably benign	Het
Git2	G	T	5: 114,907,759 (GRCm39)	C35*	probably null	Het
Gm21103	T	G	14: 17,482,795 (GRCm39)	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Hmcn2	C	A	2: 31,250,908 (GRCm39)	T790K	probably benign	Het
Hspg2	T	A	4: 137,279,427 (GRCm39)	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,549,965 (GRCm39)	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,511 (GRCm39)	Y1106*	probably null	Het
Klre1	T	A	6: 129,560,129 (GRCm39)	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,787,320 (GRCm39)	I10T	probably benign	Het
Map4	T	C	9: 109,807,938 (GRCm39)	M1T	probably null	Het
Met	T	A	6: 17,527,154 (GRCm39)	I535K	probably benign	Het
Mmut	T	C	17: 41,263,730 (GRCm39)	V500A	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,864,468 (GRCm39)	L68P	probably damaging	Het
Mtmr4	T	C	11: 87,491,439 (GRCm39)	W135R	probably damaging	Het
Myh10	A	G	11: 68,692,965 (GRCm39)	D1420G	probably benign	Het
Naglu	A	C	11: 100,963,056 (GRCm39)	D229A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncln	G	T	10: 81,323,683 (GRCm39)	Y517*	probably null	Het
Nr1h4	G	A	10: 89,334,091 (GRCm39)	R100*	probably null	Het
Or5k1	G	A	16: 58,617,771 (GRCm39)	T146M	probably benign	Het
P2rx5	A	T	11: 73,051,474 (GRCm39)	T18S	probably damaging	Het
Pclo	T	C	5: 14,729,271 (GRCm39)	S2710P	unknown	Het
Pdhx	A	T	2: 102,903,659 (GRCm39)	F46I	probably benign	Het
Piezo2	A	T	18: 63,278,181 (GRCm39)	L241*	probably null	Het
Pitpnm1	G	A	19: 4,152,787 (GRCm39)	V65M	probably damaging	Het
Rgs3	A	G	4: 62,608,724 (GRCm39)	D330G	probably damaging	Het
Scaf8	T	C	17: 3,209,457 (GRCm39)	V60A	unknown	Het
Sema4c	A	G	1: 36,592,101 (GRCm39)	Y249H	probably damaging	Het
Spp2	T	C	1: 88,335,050 (GRCm39)	Y27H	probably damaging	Het
Sugct	T	A	13: 17,819,372 (GRCm39)	I158F	possibly damaging	Het
Sympk	A	T	7: 18,788,017 (GRCm39)	I1178F	probably benign	Het
Tmppe	T	C	9: 114,234,036 (GRCm39)	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,276,073 (GRCm39)	T187A		Het
Tspoap1	A	G	11: 87,665,523 (GRCm39)	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,208,044 (GRCm39)	S811C	probably benign	Het
Zfp638	T	C	6: 83,844,181 (GRCm39)	S15P	unknown	Het
Zfp763	A	G	17: 33,237,769 (GRCm39)	S459P	probably damaging	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
R7071:Khsrp	UTSW	17	57,332,386 (GRCm39)	missense	possibly damaging	0.55
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'- AGAGGCAGTCTTGAGGATGC -3'
(R):5'- TATGTGTGTCCTTCCCACAAGAC -3'

Sequencing Primer
(F):5'- CAGTCTTGAGGATGCTGGAGAATG -3'
(R):5'- TTGTGGACAATTTGACACCCAC -3'

Posted On

2019-05-15