Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Khdrbs3'

255154

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs3

Ensembl Gene

ENSMUSG00000022332

Gene Name

KH domain containing, RNA binding, signal transduction associated 3

Synonyms

Etle, SLM-2, T-STAR, Salp

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68800269-68973060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68921239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 185 (D185E)

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: D273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: D273E

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: D273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229683
AA Change: D273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230847
AA Change: D185E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,878,424 (GRCm39)	W405R	probably damaging	Het
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,942,887 (GRCm39)		probably null	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,362,015 (GRCm39)	D123G	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	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
IGL03303:Khdrbs3	APN	15	68,896,672 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGAGACAATCTGGGAGCTTC -3'
(R):5'- TCCACGTGCGATGATGTATGC -3'

Sequencing Primer
(F):5'- GCTTCTTGCTCTGACAGTTTGACTG -3'
(R):5'- ATGCTATTTGGAAGTGGACTCTAC -3'

Posted On

2014-12-29