Mutagenetix > Incidental Mutation

Incidental Mutation 'R5897:Khdrbs1'

457579

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs1

Ensembl Gene

ENSMUSG00000028790

Gene Name

KH domain containing, RNA binding, signal transduction associated 1

Synonyms

p62, Sam68

MMRRC Submission

044096-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R5897 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129614448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 368 (D368E)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066257] [ENSMUST00000129342]

AlphaFold

Q60749

Predicted Effect

probably benign
Transcript: ENSMUST00000066257
AA Change: D368E

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

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: D368E

Domain	Start	End	E-Value	Type
low complexity region	34	74	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
KH	154	252	6.91e-11	SMART
low complexity region	281	316	N/A	INTRINSIC
low complexity region	326	351	N/A	INTRINSIC
Pfam:Sam68-YY	366	415	1.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129342
AA Change: D368E

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

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: D368E

Domain	Start	End	E-Value	Type
low complexity region	34	74	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
KH	154	252	6.91e-11	SMART
low complexity region	281	316	N/A	INTRINSIC
low complexity region	326	351	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC
low complexity region	377	397	N/A	INTRINSIC
PDB:3QHE\|D	398	419	3e-8	PDB

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth. [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
Abi3bp	A	G	16: 56,425,032 (GRCm39)	T489A	possibly damaging	Het
Adam3	T	C	8: 25,187,244 (GRCm39)	T416A	probably benign	Het
Agbl3	A	G	6: 34,780,508 (GRCm39)	I494V	probably benign	Het
Akap9	T	C	5: 4,127,904 (GRCm39)	S3747P	probably benign	Het
Arhgef18	G	T	8: 3,489,682 (GRCm39)	R338L	probably damaging	Het
Atg16l1	G	T	1: 87,713,719 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,010,339 (GRCm39)	S56P	possibly damaging	Het
Ccdc121	T	C	5: 31,643,308 (GRCm39)		probably benign	Het
Ccdc175	T	A	12: 72,206,578 (GRCm39)	I223L	probably benign	Het
Cdcp3	A	T	7: 130,798,280 (GRCm39)		probably null	Het
Cep76	T	A	18: 67,771,398 (GRCm39)	Q78L	probably benign	Het
Cyp20a1	A	C	1: 60,392,220 (GRCm39)	N92T	probably damaging	Het
Cyp2c68	T	C	19: 39,700,975 (GRCm39)	D281G	probably benign	Het
Cyp2j12	T	C	4: 95,990,279 (GRCm39)	N429S	probably damaging	Het
Dchs2	G	A	3: 83,192,717 (GRCm39)	V1721I	possibly damaging	Het
Elovl4	G	A	9: 83,672,157 (GRCm39)	T54M	possibly damaging	Het
Fam13b	A	G	18: 34,587,134 (GRCm39)	V542A	possibly damaging	Het
Gje1	A	T	10: 14,592,467 (GRCm39)	I105N	probably damaging	Het
Grm4	G	T	17: 27,654,137 (GRCm39)	F349L	probably benign	Het
Hsd17b3	A	G	13: 64,236,799 (GRCm39)		probably null	Het
Klra10	T	A	6: 130,258,792 (GRCm39)	R32*	probably null	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Or2i1	A	T	17: 37,508,151 (GRCm39)	L161Q	probably damaging	Het
Or2t1	G	T	14: 14,328,120 (GRCm38)	G3V	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pbx3	A	T	2: 34,261,920 (GRCm39)	S5T	probably benign	Het
Pcdhb13	T	A	18: 37,576,264 (GRCm39)	V214E	probably benign	Het
Pkd1l1	T	C	11: 8,829,176 (GRCm39)	D1022G	probably benign	Het
Pla2g4a	T	A	1: 149,740,899 (GRCm39)	K380I	probably damaging	Het
Prl3b1	A	G	13: 27,429,858 (GRCm39)	T99A	probably benign	Het
Prr12	C	T	7: 44,692,808 (GRCm39)	V1575I	probably damaging	Het
Ptpn5	C	T	7: 46,729,262 (GRCm39)	V451I	probably benign	Het
Rab1a	C	T	11: 20,168,867 (GRCm39)	R51*	probably null	Het
Skint9	A	G	4: 112,271,113 (GRCm39)	I99T	possibly damaging	Het
Tbc1d8	A	G	1: 39,431,190 (GRCm39)	V394A	possibly damaging	Het
Tcf20	A	T	15: 82,735,984 (GRCm39)	C1822*	probably null	Het
Tdrd6	T	A	17: 43,935,768 (GRCm39)	D1760V	probably damaging	Het
Tinag	C	A	9: 76,952,726 (GRCm39)	C86F	probably damaging	Het
Tmtc2	A	T	10: 105,249,459 (GRCm39)	N91K	probably damaging	Het
Tmub1	G	A	5: 24,651,925 (GRCm39)	T13M	probably benign	Het
Txn2	G	A	15: 77,808,726 (GRCm39)	A135V	probably benign	Het
Ush2a	G	A	1: 188,553,935 (GRCm39)	G3475R	probably damaging	Het
Usp38	T	C	8: 81,732,082 (GRCm39)	D276G	probably benign	Het
Vax1	T	A	19: 59,158,233 (GRCm39)	I77F	unknown	Het
Vmn2r108	C	T	17: 20,691,580 (GRCm39)	M314I	probably benign	Het
Vmn2r4	C	A	3: 64,322,687 (GRCm39)	G11*	probably null	Het
Zcchc14	T	C	8: 122,331,899 (GRCm39)		probably benign	Het

Other mutations in Khdrbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Khdrbs1	APN	4	129,619,462 (GRCm39)	missense	probably benign	0.00
IGL01801:Khdrbs1	APN	4	129,635,574 (GRCm39)	missense	probably benign
IGL03163:Khdrbs1	APN	4	129,619,508 (GRCm39)	missense	probably benign	0.40
R1163:Khdrbs1	UTSW	4	129,619,379 (GRCm39)	missense	possibly damaging	0.48
R1350:Khdrbs1	UTSW	4	129,614,545 (GRCm39)	missense	probably benign
R2059:Khdrbs1	UTSW	4	129,619,514 (GRCm39)	missense	probably damaging	1.00
R2192:Khdrbs1	UTSW	4	129,613,830 (GRCm39)	critical splice donor site	probably null
R2518:Khdrbs1	UTSW	4	129,614,540 (GRCm39)	missense	probably benign
R3000:Khdrbs1	UTSW	4	129,619,456 (GRCm39)	missense	probably damaging	1.00
R3552:Khdrbs1	UTSW	4	129,614,584 (GRCm39)	missense	possibly damaging	0.86
R4402:Khdrbs1	UTSW	4	129,635,889 (GRCm39)	missense	possibly damaging	0.93
R4623:Khdrbs1	UTSW	4	129,614,635 (GRCm39)	missense	probably benign	0.07
R5138:Khdrbs1	UTSW	4	129,635,647 (GRCm39)	missense	probably benign	0.13
R5384:Khdrbs1	UTSW	4	129,635,729 (GRCm39)	missense	possibly damaging	0.70
R5863:Khdrbs1	UTSW	4	129,616,493 (GRCm39)	missense	probably damaging	0.99
R6018:Khdrbs1	UTSW	4	129,613,887 (GRCm39)	missense	probably benign
R6153:Khdrbs1	UTSW	4	129,609,965 (GRCm39)	missense	probably damaging	0.99
R6185:Khdrbs1	UTSW	4	129,636,068 (GRCm39)	start gained	probably benign
R6377:Khdrbs1	UTSW	4	129,635,890 (GRCm39)	missense	probably damaging	0.98
R6983:Khdrbs1	UTSW	4	129,614,635 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCTGTATGTTGAACCCACAACTTC -3'
(R):5'- ACCTAGAGGAGCTTTGGTTCG -3'

Sequencing Primer
(F):5'- AGACAAGGCTTCTCTGTATAGCC -3'
(R):5'- TTCGTGGAACCCCAGTGAGAG -3'

Posted On

2017-02-15