Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Khsrp'

170640

Institutional Source

Beutler Lab

Gene Symbol

Khsrp

Ensembl Gene

ENSMUSG00000007670

Gene Name

KH-type splicing regulatory protein

Synonyms

6330409F21Rik, KSRP

MMRRC Submission

039600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57328049-57338507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57332639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 214 (S214P)

Ref Sequence

ENSEMBL: ENSMUSP00000007814 (fasta)

Gene Model

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

AlphaFold

Q3U0V1

Predicted Effect

probably benign
Transcript: ENSMUST00000007814
AA Change: S214P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: S214P

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,431 (GRCm39)	N69D	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,342,344 (GRCm39)	E171G	probably damaging	Het
Atg7	T	C	6: 114,678,133 (GRCm39)	V341A	possibly damaging	Het
Bace1	G	T	9: 45,750,492 (GRCm39)	R56L	probably benign	Het
Cd200l1	A	G	16: 45,262,875 (GRCm39)	V88A	possibly damaging	Het
Chfr	A	T	5: 110,306,674 (GRCm39)	D472V	probably benign	Het
Ckap2l	G	A	2: 129,112,645 (GRCm39)	T621I	probably benign	Het
Cmip	A	G	8: 118,180,589 (GRCm39)	T554A	probably benign	Het
Crocc	C	T	4: 140,757,579 (GRCm39)	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
F5	C	A	1: 164,014,472 (GRCm39)	S581*	probably null	Het
Fam227a	T	A	15: 79,520,963 (GRCm39)	Y291F	possibly damaging	Het
Gpr151	A	T	18: 42,712,221 (GRCm39)	S152R	probably benign	Het
Gpr158	A	T	2: 21,820,505 (GRCm39)		probably null	Het
Kcna5	T	C	6: 126,511,546 (GRCm39)	Y194C	probably damaging	Het
Mrgprb1	C	G	7: 48,096,873 (GRCm39)		probably null	Het
Mrnip	C	T	11: 50,067,676 (GRCm39)	T30I	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Obscn	T	G	11: 58,926,899 (GRCm39)	T5539P	probably damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or9m1	C	T	2: 87,733,505 (GRCm39)	V172I	probably benign	Het
Ovca2	A	G	11: 75,068,805 (GRCm39)	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,518 (GRCm39)	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Polr3b	T	A	10: 84,470,776 (GRCm39)	M139K	probably damaging	Het
Prkag2	T	C	5: 25,076,593 (GRCm39)	Y191C	probably damaging	Het
Prss47	A	T	13: 65,194,062 (GRCm39)	C278S	probably damaging	Het
Ptprm	T	C	17: 67,247,536 (GRCm39)	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,129,217 (GRCm39)	V726A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,516,451 (GRCm39)	N603S	probably benign	Het
Slc2a1	A	G	4: 118,993,606 (GRCm39)	E481G	possibly damaging	Het
Slc35a5	A	C	16: 44,971,884 (GRCm39)	S127A	possibly damaging	Het
Spen	C	A	4: 141,199,694 (GRCm39)	G2978*	probably null	Het
Srrt	T	A	5: 137,298,281 (GRCm39)	E297V	probably benign	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,694,707 (GRCm39)	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993 (GRCm38)	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,974,680 (GRCm39)	R883*	probably null	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vav3	T	C	3: 109,402,154 (GRCm39)		probably null	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Zan	A	T	5: 137,379,100 (GRCm39)	Y5333*	probably null	Het
Zfp994	A	C	17: 22,420,206 (GRCm39)	F248V	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
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
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'- TTTGTTTGGTCTGTTGCCAACACAC -3'
(R):5'- ACCTGAGTCTGTCCAGTAAGTCCC -3'

Sequencing Primer
(F):5'- TGTTGCCAACACACACCTG -3'
(R):5'- CCTACAGGAGTTAGTGACACCTATG -3'

Posted On

2014-04-13