Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Khdrbs3'

416291

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

Etle, SLM-2, T-STAR, Salp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

68800269-68973060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68896672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 111 (T111A)

Ref Sequence

ENSEMBL: ENSMUSP00000154871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230073] [ENSMUST00000230847]

AlphaFold

Q9R226

Predicted Effect

probably benign
Transcript: ENSMUST00000022954
AA Change: T199A

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

SMART Domains

Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: T199A

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 benign
Transcript: ENSMUST00000229234
AA Change: T199A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229683
AA Change: T199A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230073

Predicted Effect

probably benign
Transcript: ENSMUST00000230847
AA Change: T111A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Agap1	T	A	1: 89,592,874 (GRCm39)	V307D	probably damaging	Het
Amd1	A	G	10: 40,166,121 (GRCm39)	V286A	possibly damaging	Het
Bltp1	A	G	3: 36,924,226 (GRCm39)	E17G	possibly damaging	Het
Chrne	T	C	11: 70,505,926 (GRCm39)	K453R	possibly damaging	Het
Ckm	T	A	7: 19,148,263 (GRCm39)		probably benign	Het
Ckmt1	A	G	2: 121,190,486 (GRCm39)	T138A	probably benign	Het
Cldn4	A	G	5: 134,975,103 (GRCm39)	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,535,198 (GRCm39)	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,777,812 (GRCm39)	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,838,006 (GRCm39)	I236T	probably benign	Het
Enam	G	T	5: 88,652,450 (GRCm39)	V1320L	probably benign	Het
Ezh1	A	C	11: 101,086,497 (GRCm39)		probably null	Het
F13b	A	T	1: 139,440,774 (GRCm39)	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,425,255 (GRCm39)	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,001 (GRCm39)	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,469,827 (GRCm39)	Q181*	probably null	Het
Htr2b	T	C	1: 86,027,061 (GRCm39)		probably benign	Het
Igkv1-35	A	G	6: 69,988,635 (GRCm39)	I8T	probably benign	Het
Kcnq2	T	C	2: 180,724,182 (GRCm39)	T584A	probably benign	Het
Krtap29-1	A	T	11: 99,869,669 (GRCm39)	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,459,937 (GRCm39)	I188F	probably damaging	Het
Med1	G	T	11: 98,049,178 (GRCm39)	N539K	probably damaging	Het
Mga	T	A	2: 119,733,933 (GRCm39)	D260E	probably damaging	Het
Mnd1	A	G	3: 84,012,244 (GRCm39)	I155T	probably benign	Het
Msrb3	T	C	10: 120,620,046 (GRCm39)	D91G	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323 (GRCm39)		probably benign	Het
Nrsn2	T	C	2: 152,216,131 (GRCm39)	D24G	possibly damaging	Het
Or4c127	A	T	2: 89,832,810 (GRCm39)	K20I	possibly damaging	Het
Osmr	T	A	15: 6,872,289 (GRCm39)	R268S	probably benign	Het
Pelo	C	A	13: 115,225,197 (GRCm39)	V343L	probably damaging	Het
Rp1	T	A	1: 4,415,040 (GRCm39)	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,495,411 (GRCm39)	Q33*	probably null	Het
Slfn2	G	A	11: 82,960,293 (GRCm39)	V91I	possibly damaging	Het
Socs6	G	T	18: 88,887,868 (GRCm39)	A349E	probably damaging	Het
Syt2	A	G	1: 134,669,649 (GRCm39)	N97D	probably benign	Het
Tas2r123	T	A	6: 132,824,401 (GRCm39)	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,239,933 (GRCm39)		probably benign	Het
Ube2s	A	T	7: 4,813,476 (GRCm39)	V35D	probably damaging	Het
Usp32	A	T	11: 84,913,658 (GRCm39)	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,277,434 (GRCm39)	E275D	probably benign	Het
Vps13c	A	G	9: 67,841,786 (GRCm39)	H1936R	probably benign	Het
Wrap73	C	A	4: 154,231,000 (GRCm39)	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,468,410 (GRCm39)	T2856M	probably damaging	Het
Zmym1	A	T	4: 126,942,927 (GRCm39)	I487N	probably damaging	Het

Other mutations in Khdrbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02333:Khdrbs3	APN	15	68,921,243 (GRCm39)	missense	probably damaging	1.00
IGL02756:Khdrbs3	APN	15	68,896,685 (GRCm39)	missense	probably benign	0.28
R0014:Khdrbs3	UTSW	15	68,896,684 (GRCm39)	missense	probably benign	0.00
R0066:Khdrbs3	UTSW	15	68,866,886 (GRCm39)	splice site	probably benign
R0487:Khdrbs3	UTSW	15	68,889,210 (GRCm39)	missense	probably damaging	1.00
R1500:Khdrbs3	UTSW	15	68,800,635 (GRCm39)	missense	possibly damaging	0.90
R1871:Khdrbs3	UTSW	15	68,921,291 (GRCm39)	missense	probably damaging	1.00
R2002:Khdrbs3	UTSW	15	68,885,328 (GRCm39)	intron	probably benign
R2111:Khdrbs3	UTSW	15	68,896,673 (GRCm39)	missense	probably benign	0.25
R2191:Khdrbs3	UTSW	15	68,964,809 (GRCm39)	missense	probably damaging	0.96
R2290:Khdrbs3	UTSW	15	68,901,610 (GRCm39)	missense	probably damaging	1.00
R2516:Khdrbs3	UTSW	15	68,896,544 (GRCm39)	splice site	probably benign
R2940:Khdrbs3	UTSW	15	68,921,239 (GRCm39)	missense	probably damaging	1.00
R3418:Khdrbs3	UTSW	15	68,921,224 (GRCm39)	splice site	probably benign
R5770:Khdrbs3	UTSW	15	68,921,312 (GRCm39)	critical splice donor site	probably null
R5885:Khdrbs3	UTSW	15	68,896,547 (GRCm39)	critical splice acceptor site	probably null
R6829:Khdrbs3	UTSW	15	68,964,810 (GRCm39)	missense	possibly damaging	0.58
R7288:Khdrbs3	UTSW	15	68,921,262 (GRCm39)	missense	possibly damaging	0.95
R9215:Khdrbs3	UTSW	15	68,964,798 (GRCm39)	missense	probably damaging	0.99
R9732:Khdrbs3	UTSW	15	68,885,212 (GRCm39)	missense	probably damaging	1.00
Z1176:Khdrbs3	UTSW	15	68,889,316 (GRCm39)	missense	probably damaging	1.00
Z1177:Khdrbs3	UTSW	15	68,800,680 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02