Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02333:Khdrbs3'

288762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Khdrbs3

Ensembl Gene

ENSMUSG00000022332

Gene Name

KH domain containing, RNA binding, signal transduction associated 3

Synonyms

T-STAR, SLM-2, Etle, Salp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02333

Quality Score

Status

Chromosome

Chromosomal Location

68928420-69101211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69049394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 187 (Y187H)

Ref Sequence

ENSEMBL: ENSMUSP00000154871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230847]

AlphaFold

Q9R226

Predicted Effect

probably damaging
Transcript: ENSMUST00000022954
AA Change: Y275H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: Y275H

Domain	Start	End	E-Value	Type
PDB:2XA6\|B	2	27	2e-7	PDB
low complexity region	30	44	N/A	INTRINSIC
KH	54	152	8.92e-5	SMART
Pfam:Sam68-YY	266	320	3.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229234
AA Change: Y275H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229683
AA Change: Y275H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230847
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. [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
Ace	G	A	11: 105,971,447	V276I	probably benign	Het
Acss2	T	A	2: 155,555,884	W289R	probably damaging	Het
Alpk2	A	G	18: 65,349,480	S19P	probably damaging	Het
Ano3	T	C	2: 110,697,199		probably benign	Het
Atxn1	G	A	13: 45,567,204	S405F	probably damaging	Het
Atxn2	A	G	5: 121,781,387	Y386C	probably damaging	Het
Bach2	T	A	4: 32,575,334	L643*	probably null	Het
Ccl22	T	A	8: 94,749,879	L91Q	probably damaging	Het
Cdc40	A	G	10: 40,867,859	Y81H	probably benign	Het
Col5a3	C	A	9: 20,799,306	R549M	unknown	Het
Eif3e	A	T	15: 43,266,137	N198K	probably benign	Het
Emp2	A	G	16: 10,284,511	Y146H	probably damaging	Het
Impg1	G	A	9: 80,440,755	L66F	possibly damaging	Het
Itsn1	A	G	16: 91,820,676		probably benign	Het
Klhdc7a	T	A	4: 139,967,156	H160L	probably benign	Het
Klhl2	G	A	8: 64,759,750	R252W	probably damaging	Het
Krba1	C	T	6: 48,413,087	T595I	probably damaging	Het
Myo9b	G	T	8: 71,358,993	D1887Y	possibly damaging	Het
Olfm4	C	T	14: 80,021,770	T453I	probably damaging	Het
Sin3a	A	G	9: 57,107,559	N688S	possibly damaging	Het
Slc47a1	A	G	11: 61,370,124	V150A	probably damaging	Het
Sptbn4	A	G	7: 27,364,299	L2234P	probably damaging	Het
Trpm4	C	T	7: 45,322,115	V166M	possibly damaging	Het
Usp54	A	T	14: 20,589,395	F156L	probably damaging	Het
Vmn2r32	A	T	7: 7,464,144	F795Y	probably damaging	Het

Other mutations in Khdrbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02756:Khdrbs3	APN	15	69024836	missense	probably benign	0.28
IGL03303:Khdrbs3	APN	15	69024823	missense	probably benign	0.00
R0014:Khdrbs3	UTSW	15	69024835	missense	probably benign	0.00
R0066:Khdrbs3	UTSW	15	68995037	splice site	probably benign
R0487:Khdrbs3	UTSW	15	69017361	missense	probably damaging	1.00
R1500:Khdrbs3	UTSW	15	68928786	missense	possibly damaging	0.90
R1871:Khdrbs3	UTSW	15	69049442	missense	probably damaging	1.00
R2002:Khdrbs3	UTSW	15	69013479	intron	probably benign
R2111:Khdrbs3	UTSW	15	69024824	missense	probably benign	0.25
R2191:Khdrbs3	UTSW	15	69092960	missense	probably damaging	0.96
R2290:Khdrbs3	UTSW	15	69029761	missense	probably damaging	1.00
R2516:Khdrbs3	UTSW	15	69024695	splice site	probably benign
R2940:Khdrbs3	UTSW	15	69049390	missense	probably damaging	1.00
R3418:Khdrbs3	UTSW	15	69049375	splice site	probably benign
R5770:Khdrbs3	UTSW	15	69049463	critical splice donor site	probably null
R5885:Khdrbs3	UTSW	15	69024698	critical splice acceptor site	probably null
R6829:Khdrbs3	UTSW	15	69092961	missense	possibly damaging	0.58
R7288:Khdrbs3	UTSW	15	69049413	missense	possibly damaging	0.95
R9215:Khdrbs3	UTSW	15	69092949	missense	probably damaging	0.99
R9732:Khdrbs3	UTSW	15	69013363	missense	probably damaging	1.00
Z1176:Khdrbs3	UTSW	15	69017467	missense	probably damaging	1.00
Z1177:Khdrbs3	UTSW	15	68928831	missense	probably benign	0.01

Posted On

2015-04-16