Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01801:Khdrbs1'

155523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Khdrbs1

Ensembl Gene

ENSMUSG00000028790

Gene Name

KH domain containing, RNA binding, signal transduction associated 1

Synonyms

p62, Sam68

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

IGL01801

Quality Score

Status

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129635574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 127 (V127A)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

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

AlphaFold

Q60749

Predicted Effect

probably benign
Transcript: ENSMUST00000066257
AA Change: V127A

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

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: V127A

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: V127A

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

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: V127A

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

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	C	T	17: 54,031,870 (GRCm39)		noncoding transcript	Het
Acsm4	C	T	7: 119,306,486 (GRCm39)	T308I	possibly damaging	Het
Adamtsl1	A	G	4: 86,117,559 (GRCm39)	N174S	probably benign	Het
Atp1b1	C	T	1: 164,265,918 (GRCm39)	G281D	probably damaging	Het
Cacna1e	T	C	1: 154,347,086 (GRCm39)	N1027S	probably null	Het
Cacnb4	A	T	2: 52,324,723 (GRCm39)	N446K	probably benign	Het
Cfap210	A	T	2: 69,606,623 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,679,393 (GRCm39)	D215G	probably damaging	Het
Cyp2d22	T	C	15: 82,257,046 (GRCm39)	T312A	probably benign	Het
Cyp4f40	A	T	17: 32,895,279 (GRCm39)	N467I	probably damaging	Het
Dnaaf10	T	C	11: 17,169,015 (GRCm39)	I62T	probably benign	Het
Ehd4	A	T	2: 119,932,822 (GRCm39)	D201E	probably damaging	Het
Farsb	T	C	1: 78,435,216 (GRCm39)	T444A	probably benign	Het
Gabra6	A	C	11: 42,205,935 (GRCm39)	I307R	probably damaging	Het
Impg2	G	A	16: 56,057,111 (GRCm39)	R287H	probably damaging	Het
Lcp1	A	T	14: 75,436,815 (GRCm39)	T54S	probably benign	Het
Mrgpra6	T	C	7: 46,835,572 (GRCm39)	D283G	possibly damaging	Het
Mterf4	T	C	1: 93,232,642 (GRCm39)	R70G	probably benign	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Or4n4	A	G	14: 50,519,665 (GRCm39)	I15T	probably benign	Het
Pax8	A	G	2: 24,334,576 (GRCm39)		probably null	Het
Prmt9	T	C	8: 78,289,069 (GRCm39)	V257A	probably damaging	Het
Sspo	T	C	6: 48,434,072 (GRCm39)	V959A	probably damaging	Het
Vps54	T	C	11: 21,225,131 (GRCm39)		probably null	Het
Wdr70	C	T	15: 7,916,805 (GRCm39)		probably null	Het

Other mutations in Khdrbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Khdrbs1	APN	4	129,619,462 (GRCm39)	missense	probably benign	0.00
IGL03163:Khdrbs1	APN	4	129,619,508 (GRCm39)	missense	probably benign	0.40
R1163:Khdrbs1	UTSW	4	129,619,379 (GRCm39)	missense	possibly damaging	0.48
R1350:Khdrbs1	UTSW	4	129,614,545 (GRCm39)	missense	probably benign
R2059:Khdrbs1	UTSW	4	129,619,514 (GRCm39)	missense	probably damaging	1.00
R2192:Khdrbs1	UTSW	4	129,613,830 (GRCm39)	critical splice donor site	probably null
R2518:Khdrbs1	UTSW	4	129,614,540 (GRCm39)	missense	probably benign
R3000:Khdrbs1	UTSW	4	129,619,456 (GRCm39)	missense	probably damaging	1.00
R3552:Khdrbs1	UTSW	4	129,614,584 (GRCm39)	missense	possibly damaging	0.86
R4402:Khdrbs1	UTSW	4	129,635,889 (GRCm39)	missense	possibly damaging	0.93
R4623:Khdrbs1	UTSW	4	129,614,635 (GRCm39)	missense	probably benign	0.07
R5138:Khdrbs1	UTSW	4	129,635,647 (GRCm39)	missense	probably benign	0.13
R5384:Khdrbs1	UTSW	4	129,635,729 (GRCm39)	missense	possibly damaging	0.70
R5863:Khdrbs1	UTSW	4	129,616,493 (GRCm39)	missense	probably damaging	0.99
R5897:Khdrbs1	UTSW	4	129,614,448 (GRCm39)	missense	probably benign
R6018:Khdrbs1	UTSW	4	129,613,887 (GRCm39)	missense	probably benign
R6153:Khdrbs1	UTSW	4	129,609,965 (GRCm39)	missense	probably damaging	0.99
R6185:Khdrbs1	UTSW	4	129,636,068 (GRCm39)	start gained	probably benign
R6377:Khdrbs1	UTSW	4	129,635,890 (GRCm39)	missense	probably damaging	0.98
R6983:Khdrbs1	UTSW	4	129,614,635 (GRCm39)	missense	probably benign	0.07

Posted On

2014-02-04