Mutagenetix > Incidental Mutations

Incidental Mutation 'R6018:Khdrbs1'

478708

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

044192-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.635) question?

Stock #

R6018 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

129703164-129742303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129720094 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 374 (T374A)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066257
AA Change: T374A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: T374A

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: T374A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: T374A

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,799	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,163,246		probably null	Het
2310022B05Rik	A	G	8: 124,639,114	F297L	probably benign	Het
Acbd3	T	C	1: 180,752,338	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,799,255	N227S	probably damaging	Het
Ak6	C	T	13: 100,665,951	Q151*	probably null	Het
Ano4	A	G	10: 89,029,266	L297P	probably benign	Het
Anxa5	T	C	3: 36,450,658	T252A	probably benign	Het
Ap5s1	G	A	2: 131,212,995	W212*	probably null	Het
Arl9	A	G	5: 77,007,406	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,661,171	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,298,012		probably benign	Het
Atp2b1	G	A	10: 99,010,760	A808T	probably damaging	Het
Bckdhb	C	A	9: 84,069,184	T342K	probably benign	Het
Bdp1	T	C	13: 100,038,224	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,589	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235	I1148M	probably damaging	Het
Csf3r	T	A	4: 126,043,621	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,650,468		probably benign	Het
Cyp2c39	A	T	19: 39,510,992	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,826,460	V52L	probably benign	Het
Dppa4	T	A	16: 48,289,127	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,242,481	S770P	probably damaging	Het
Fbxl16	A	T	17: 25,817,735	D230V	probably damaging	Het
Gm4847	G	A	1: 166,643,448	A11V	probably damaging	Het
Gm9978	C	T	10: 78,487,081		noncoding transcript	Het
Gpatch8	A	G	11: 102,480,915	L599P	unknown	Het
Hdac4	A	G	1: 91,958,398	L254P	probably damaging	Het
Heatr1	A	G	13: 12,404,947	I384V	probably benign	Het
Heatr1	A	T	13: 12,406,058	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,370,792	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,435,040	S87P	probably damaging	Het
Il2rb	G	T	15: 78,482,066	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,626,152		probably null	Het
Ipo9	A	G	1: 135,390,536		probably null	Het
Lamc3	G	T	2: 31,905,712	G370W	probably damaging	Het
Lipn	T	A	19: 34,076,935	L191Q	probably damaging	Het
Lpl	T	C	8: 68,901,288	V427A	probably benign	Het
Magi3	T	C	3: 104,105,812	S120G	probably damaging	Het
Mgl2	T	C	11: 70,137,111	*382Q	probably null	Het
Nab2	G	A	10: 127,664,924	Q100*	probably null	Het
Nfat5	T	A	8: 107,355,651		probably null	Het
Nqo1	T	C	8: 107,388,868	H259R	probably damaging	Het
Nrd1	T	A	4: 109,013,747	D190E	probably benign	Het
Olfr1030	T	A	2: 85,984,804		probably benign	Het
Osmr	G	A	15: 6,815,795	P830L	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Pde11a	T	A	2: 76,017,850	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,385,016		probably benign	Het
Pla2g3	T	C	11: 3,491,916	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,943,848	V244A	probably benign	Het
Pramef25	C	T	4: 143,950,899	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,503,502	V8A	probably benign	Het
Rbbp5	T	C	1: 132,494,340	V199A	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	G	1: 4,352,836	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,830,063	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,016,959	H767Q	probably benign	Het
Sis	G	A	3: 72,913,192	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,876,020	A214E	probably damaging	Het
Snx13	G	T	12: 35,047,319		probably benign	Het
Sun5	T	A	2: 153,858,443	I295F	probably damaging	Het
Themis3	C	T	17: 66,593,209	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,455,138	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,706,719	E122G	probably damaging	Het
Top3b	T	C	16: 16,892,892	V862A	probably damaging	Het
Trim35	A	T	14: 66,308,750	D322V	probably damaging	Het
Trpm2	A	G	10: 77,917,713	F1319S	probably benign	Het
Ttn	T	A	2: 76,954,676	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,463,006	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,872,667	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,863,670	A65T	probably benign	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
R5138:Khdrbs1	UTSW	4	129741854	missense	probably benign	0.13
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
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'- CTGCAAGTCATCAAAAGCATAGG -3'
(R):5'- GGGTTCAACATACAGACGTTTAC -3'

Sequencing Primer
(F):5'- CAAGTCATCAAAAGCATAGGGAATAC -3'
(R):5'- TATTCACTCCACAGGGGT -3'

Posted On

2017-06-26