Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Khdrbs2'

153369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Khdrbs2

Ensembl Gene

ENSMUSG00000026058

Gene Name

KH domain containing, RNA binding, signal transduction associated 2

Synonyms

SLM-1, 6330586C16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

32211795-32697649 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 32658257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 272 (Y272*)

Ref Sequence

ENSEMBL: ENSMUSP00000027226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226]

AlphaFold

Q9WU01

Predicted Effect

probably null
Transcript: ENSMUST00000027226
AA Change: Y272*

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: Y272*

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is similar to the src associated in mitosis, 68 kDa protein, which is an RNA-binding protein and a substrate for Src-family tyrosine kinases during mitosis. This protein has a KH RNA-binding motif and proline-rich motifs which may be SH2 and SH3 domain binding sites. A similar rat protein is an RNA-binding protein which is tyrosine phosphorylated by Src during mitosis. These studies also suggest that the rat protein may function as an adaptor protein for Src by binding the SH2 and SH3 domains of various other proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals display smaller brain size and reduced weight in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cldn23	T	C	8: 36,292,816 (GRCm39)	Y224C	probably damaging	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	Het

Other mutations in Khdrbs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Khdrbs2	APN	1	32,511,833 (GRCm39)	missense	probably benign	0.00
IGL01326:Khdrbs2	APN	1	32,696,558 (GRCm39)	missense	possibly damaging	0.94
IGL01792:Khdrbs2	APN	1	32,696,548 (GRCm39)	missense	probably damaging	0.99
IGL01839:Khdrbs2	APN	1	32,453,943 (GRCm39)	splice site	probably benign
R0046:Khdrbs2	UTSW	1	32,658,283 (GRCm39)	missense	possibly damaging	0.56
R0079:Khdrbs2	UTSW	1	32,558,996 (GRCm39)	splice site	probably null
R0396:Khdrbs2	UTSW	1	32,559,054 (GRCm39)	missense	probably damaging	1.00
R0613:Khdrbs2	UTSW	1	32,696,603 (GRCm39)	missense	possibly damaging	0.94
R0616:Khdrbs2	UTSW	1	32,506,856 (GRCm39)	missense	possibly damaging	0.65
R1034:Khdrbs2	UTSW	1	32,506,872 (GRCm39)	missense	probably damaging	1.00
R1055:Khdrbs2	UTSW	1	32,683,238 (GRCm39)	splice site	probably benign
R1156:Khdrbs2	UTSW	1	32,506,956 (GRCm39)	missense	probably benign	0.04
R1456:Khdrbs2	UTSW	1	32,559,777 (GRCm39)	missense	possibly damaging	0.71
R2007:Khdrbs2	UTSW	1	32,559,629 (GRCm39)	missense	probably benign	0.04
R2079:Khdrbs2	UTSW	1	32,506,955 (GRCm39)	missense	probably benign
R2384:Khdrbs2	UTSW	1	32,558,976 (GRCm39)	missense	probably damaging	0.97
R3123:Khdrbs2	UTSW	1	32,558,858 (GRCm39)	missense	probably damaging	0.98
R3124:Khdrbs2	UTSW	1	32,558,858 (GRCm39)	missense	probably damaging	0.98
R3772:Khdrbs2	UTSW	1	32,283,157 (GRCm39)	nonsense	probably null
R4078:Khdrbs2	UTSW	1	32,558,895 (GRCm39)	intron	probably benign
R4088:Khdrbs2	UTSW	1	32,372,605 (GRCm39)	missense	probably damaging	1.00
R4955:Khdrbs2	UTSW	1	32,559,158 (GRCm39)	intron	probably benign
R5465:Khdrbs2	UTSW	1	32,658,255 (GRCm39)	missense	probably damaging	1.00
R5668:Khdrbs2	UTSW	1	32,506,851 (GRCm39)	missense	probably damaging	1.00
R5792:Khdrbs2	UTSW	1	32,511,773 (GRCm39)	missense	probably damaging	1.00
R6639:Khdrbs2	UTSW	1	32,506,943 (GRCm39)	nonsense	probably null
R7027:Khdrbs2	UTSW	1	32,453,997 (GRCm39)	missense	probably benign	0.02
R7380:Khdrbs2	UTSW	1	32,372,685 (GRCm39)	missense	unknown
R7381:Khdrbs2	UTSW	1	32,372,883 (GRCm39)	missense	not run
R7939:Khdrbs2	UTSW	1	32,212,056 (GRCm39)	missense	probably benign	0.27
R8087:Khdrbs2	UTSW	1	32,454,057 (GRCm39)	missense	probably benign	0.11
R9347:Khdrbs2	UTSW	1	32,511,828 (GRCm39)	missense	probably benign	0.00
X0020:Khdrbs2	UTSW	1	32,454,055 (GRCm39)	missense	probably damaging	1.00
Z1088:Khdrbs2	UTSW	1	32,283,136 (GRCm39)	intron	probably benign
Z1176:Khdrbs2	UTSW	1	32,372,743 (GRCm39)	missense	unknown
Z1177:Khdrbs2	UTSW	1	32,283,048 (GRCm39)	missense	probably benign	0.30

Posted On

2014-02-04