Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Khdrbs3'

223254

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs3

Ensembl Gene

ENSMUSG00000022332

Gene Name

KH domain containing, RNA binding, signal transduction associated 3

Synonyms

T-STAR, SLM-2, Etle, Salp

MMRRC Submission

040012-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68928420-69101211 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 69013479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229683

Predicted Effect

probably benign
Transcript: ENSMUST00000230073

Predicted Effect

probably benign
Transcript: ENSMUST00000230847

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,625,606		noncoding transcript	Het
Abcb4	T	A	5: 8,905,989	S98T	probably benign	Het
Acan	T	C	7: 79,100,793	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Ak2	T	A	4: 129,008,229	S232T	probably benign	Het
Akr1e1	T	A	13: 4,607,565		probably benign	Het
Ano7	T	C	1: 93,400,581		probably benign	Het
Aox1	T	A	1: 58,047,141	H68Q	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Apba2	A	T	7: 64,733,542	I368F	probably damaging	Het
Armc3	A	G	2: 19,288,936	M513V	probably benign	Het
Asb5	G	A	8: 54,583,620	V116M	probably damaging	Het
Atg16l2	A	G	7: 101,294,920	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,164,861	T40K	probably damaging	Het
C330027C09Rik	T	C	16: 49,005,851		probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Ddx55	T	A	5: 124,566,440	V370E	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dnah10	C	T	5: 124,833,988	R4490W	probably damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Erbb3	T	C	10: 128,586,225	Y50C	probably benign	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Fgd3	T	C	13: 49,296,455	E106G	probably benign	Het
Frmd4a	A	C	2: 4,572,365	K344T	probably damaging	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gm5089	T	A	14: 122,436,274	I12F	unknown	Het
Gm7052	T	A	17: 22,039,939		probably benign	Het
Gria1	A	T	11: 57,012,104	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,733,245	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kcnma1	A	C	14: 23,337,029	S982A	probably damaging	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lmo7	G	T	14: 101,887,061	A319S	probably benign	Het
Ly6c1	T	A	15: 75,048,493	T7S	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mamdc4	A	T	2: 25,567,232	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,956,816	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,405,803	T158A	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,248,403	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,589,698	H655L	possibly damaging	Het
Npas2	T	C	1: 39,338,195	V546A	probably benign	Het
Nrxn3	G	A	12: 90,332,315	A400T	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr139	A	T	11: 74,045,039	S78R	possibly damaging	Het
Oog3	G	T	4: 144,158,105	H420Q	possibly damaging	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pcca	A	G	14: 122,887,065	I683V	probably benign	Het
Pea15a	T	C	1: 172,198,685	I90V	probably benign	Het
Plagl1	C	A	10: 13,128,658		probably benign	Het
Prmt1	A	G	7: 44,978,724	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,834	Y910*	probably null	Het
Rasal3	T	A	17: 32,393,611	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,727,166		probably benign	Het
S1pr1	A	G	3: 115,712,895	S17P	probably benign	Het
Scel	G	A	14: 103,541,985	V131M	probably damaging	Het
Scn2a	G	A	2: 65,682,083	R188Q	probably null	Het
Snap29	T	A	16: 17,406,326	Y68*	probably null	Het
Spdl1	T	C	11: 34,822,646	T199A	probably benign	Het
Srbd1	T	C	17: 86,142,400	N14D	probably benign	Het
Ston1	G	A	17: 88,635,529	G121D	probably benign	Het
Syt16	G	A	12: 74,235,203	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,671,403	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,806,195	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,539,768		probably benign	Het
Trp73	T	C	4: 154,081,445	T56A	probably damaging	Het
Trpm3	A	G	19: 22,982,583	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,697,878		probably null	Het
Ube4b	T	C	4: 149,383,797	D174G	probably benign	Het
Vmn1r211	A	T	13: 22,851,783	M238K	probably damaging	Het
Wsb2	T	A	5: 117,370,733	N77K	probably benign	Het
Xkr4	C	T	1: 3,671,095	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,689,478		probably null	Het

Other mutations in Khdrbs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02333:Khdrbs3	APN	15	69049394	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGTTTCCCCATATTCAAGGC -3'
(R):5'- TTGGAACTGGCCAGAGAAATTC -3'

Sequencing Primer
(F):5'- TTCCCCATATTCAAGGCTGGTAAAC -3'
(R):5'- CTGGCCAGAGAAATTCAGTCTTC -3'

Posted On

2014-08-25