Mutagenetix > Incidental Mutations

Incidental Mutation 'R5138:Khdrbs1'

396269

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs1

Ensembl Gene

ENSMUSG00000028790

Gene Name

KH domain containing, RNA binding, signal transduction associated 1

Synonyms

Sam68, p62

MMRRC Submission

042724-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129703164-129742303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129741854 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 103 (Y103H)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066257] [ENSMUST00000129342]

Predicted Effect

probably benign
Transcript: ENSMUST00000066257
AA Change: Y103H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: Y103H

Domain	Start	End	E-Value	Type
low complexity region	34	74	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
KH	154	252	6.91e-11	SMART
low complexity region	281	316	N/A	INTRINSIC
low complexity region	326	351	N/A	INTRINSIC
Pfam:Sam68-YY	366	415	1.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129342
AA Change: Y103H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: Y103H

Domain	Start	End	E-Value	Type
low complexity region	34	74	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
KH	154	252	6.91e-11	SMART
low complexity region	281	316	N/A	INTRINSIC
low complexity region	326	351	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC
low complexity region	377	397	N/A	INTRINSIC
PDB:3QHE\|D	398	419	3e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139281

Meta Mutation Damage Score

0.0678

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,306,821		probably null	Het
Actr10	G	A	12: 70,961,879	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,407,852	T278A	probably damaging	Het
Arpp21	T	A	9: 112,179,084	K116M	probably damaging	Het
Arrdc3	T	C	13: 80,891,065	Y72H	probably damaging	Het
Atr	T	C	9: 95,937,596	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,471,051	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,490,972	A44S	probably benign	Het
Cbx3	A	G	6: 51,475,289	E28G	probably damaging	Het
Cdh23	A	T	10: 60,312,282	F2722L	probably damaging	Het
Clec11a	A	G	7: 44,304,638	V297A	probably benign	Het
Clk2	C	A	3: 89,175,499		probably benign	Het
Clybl	T	A	14: 122,371,304	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,643,966	N2123Y	probably damaging	Het
Corin	G	A	5: 72,339,059	P517L	probably damaging	Het
Ddhd2	A	T	8: 25,727,699	I717N	probably damaging	Het
Derl2	C	A	11: 71,014,564	G31*	probably null	Het
Dgcr8	A	G	16: 18,278,077	V523A	probably damaging	Het
Dnah8	T	C	17: 30,765,597	S3090P	probably damaging	Het
Dsp	C	A	13: 38,183,298	H641N	probably benign	Het
Dsp	A	T	13: 38,195,845	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,297,531	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,623,573	V47D	probably benign	Het
Exoc1	T	C	5: 76,568,075	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,099,175	R185K	probably benign	Het
Fsip2	A	G	2: 82,981,424	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,623,105		probably null	Het
Gm15448	A	T	7: 3,824,557	Y200*	probably null	Het
Gtf3c1	A	T	7: 125,647,492	N1548K	probably benign	Het
Hist1h3b	G	A	13: 23,752,630	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,398,691	I575N	probably damaging	Het
Ifi208	A	G	1: 173,690,673	I449V	probably null	Het
Ino80	T	C	2: 119,383,421	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,728,748		probably null	Het
Kmt2e	A	G	5: 23,502,695	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,628,319	Q512L	probably benign	Het
Map2k5	T	C	9: 63,263,158	T293A	probably damaging	Het
Myo7a	C	A	7: 98,083,599	R657L	probably damaging	Het
Myrfl	A	G	10: 116,796,058		probably null	Het
Nfatc2	G	A	2: 168,536,309	H258Y	probably damaging	Het
Nup205	T	A	6: 35,225,866	L1336Q	probably damaging	Het
Olfr1218	T	C	2: 89,054,947	I160V	probably benign	Het
Olfr1436	T	C	19: 12,298,776	M119V	possibly damaging	Het
Olfr419	A	G	1: 174,250,829	S33P	probably damaging	Het
Otog	T	A	7: 46,250,006	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,447,209	I372S	probably damaging	Het
Plagl1	A	G	10: 13,128,175		probably benign	Het
Pnpla7	T	C	2: 25,041,103	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507	P328S	unknown	Het
Prdm5	C	T	6: 65,856,102	Q152*	probably null	Het
Psat1	A	G	19: 15,914,948	F216S	possibly damaging	Het
Psg21	A	T	7: 18,656,528	M1K	probably null	Het
Rab11fip3	A	T	17: 25,991,026	S994T	probably benign	Het
Rax	A	G	18: 65,938,318		probably benign	Het
Rgs22	A	T	15: 36,099,788	S260R	probably benign	Het
Ryr2	A	T	13: 11,660,289	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,255,515	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,415,028	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,856,005	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,357,773		probably benign	Het
Slit2	C	T	5: 48,281,967	P1111S	probably damaging	Het
Slit3	T	C	11: 35,588,985	Y330H	probably damaging	Het
Snw1	T	C	12: 87,460,435	K204E	probably benign	Het
Steap1	A	G	5: 5,736,486	I317T	probably damaging	Het
Sval2	A	G	6: 41,861,945	N20S	probably damaging	Het
Tfrc	C	A	16: 32,615,209	Y85*	probably null	Het
Tmem87a	T	C	2: 120,371,545	T412A	possibly damaging	Het
Utp20	T	C	10: 88,747,377	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 20,846,968	K140*	probably null	Het
Vmn2r62	A	T	7: 42,764,816	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,346,926		probably benign	Het
Zfp608	A	T	18: 54,891,799	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,212,922	C479Y	probably damaging	Het

Other mutations in Khdrbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Khdrbs1	APN	4	129725669	missense	probably benign	0.00
IGL01801:Khdrbs1	APN	4	129741781	missense	probably benign
IGL03163:Khdrbs1	APN	4	129725715	missense	probably benign	0.40
R1163:Khdrbs1	UTSW	4	129725586	missense	possibly damaging	0.48
R1350:Khdrbs1	UTSW	4	129720752	missense	probably benign
R2059:Khdrbs1	UTSW	4	129725721	missense	probably damaging	1.00
R2192:Khdrbs1	UTSW	4	129720037	critical splice donor site	probably null
R2518:Khdrbs1	UTSW	4	129720747	missense	probably benign
R3000:Khdrbs1	UTSW	4	129725663	missense	probably damaging	1.00
R3552:Khdrbs1	UTSW	4	129720791	missense	possibly damaging	0.86
R4402:Khdrbs1	UTSW	4	129742096	missense	possibly damaging	0.93
R4623:Khdrbs1	UTSW	4	129720842	missense	probably benign	0.07
R5384:Khdrbs1	UTSW	4	129741936	missense	possibly damaging	0.70
R5863:Khdrbs1	UTSW	4	129722700	missense	probably damaging	0.99
R5897:Khdrbs1	UTSW	4	129720655	missense	probably benign
R6018:Khdrbs1	UTSW	4	129720094	missense	probably benign
R6153:Khdrbs1	UTSW	4	129716172	missense	probably damaging	0.99
R6185:Khdrbs1	UTSW	4	129742275	start gained	probably benign
R6377:Khdrbs1	UTSW	4	129742097	missense	probably damaging	0.98
R6983:Khdrbs1	UTSW	4	129720842	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATGACAACTCTCGATGCCCG -3'
(R):5'- AACTGGGGACTTTGTTCTCC -3'

Sequencing Primer
(F):5'- TCTCGATGCCCGGGCTC -3'
(R):5'- ATCATCCCCGATGCAGCG -3'

Posted On

2016-06-21