Mutagenetix > Incidental Mutation

Incidental Mutation 'R1350:Khdrbs1'

159519

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

039415-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R1350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129614545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 336 (P336L)

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: P336L

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

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: P336L

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: P336L

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

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: P336L

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

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,400,925 (GRCm39)	V640A	probably benign	Het
AI661453	C	T	17: 47,778,853 (GRCm39)	Q860*	probably null	Het
Atp10d	A	G	5: 72,418,469 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,205,950 (GRCm39)		probably null	Het
Bivm	T	A	1: 44,165,863 (GRCm39)	N104K	possibly damaging	Het
Capn15	A	G	17: 26,183,666 (GRCm39)	S338P	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccn6	C	T	10: 39,034,302 (GRCm39)	C100Y	probably damaging	Het
Col13a1	G	A	10: 61,729,848 (GRCm39)		probably benign	Het
Crb2	A	G	2: 37,682,081 (GRCm39)	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,771,081 (GRCm39)	I1105F	probably damaging	Het
Dnaja2	A	T	8: 86,266,717 (GRCm39)	F337I	probably damaging	Het
Dntt	C	T	19: 41,025,578 (GRCm39)		probably benign	Het
Dock3	C	T	9: 106,791,831 (GRCm39)	E1381K	possibly damaging	Het
Fibp	T	C	19: 5,511,419 (GRCm39)	Y96H	probably damaging	Het
Garnl3	A	G	2: 32,942,226 (GRCm39)	V85A	probably damaging	Het
Gsdme	A	T	6: 50,223,108 (GRCm39)		probably null	Het
Gucy2c	A	T	6: 136,720,912 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,809,217 (GRCm39)	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530 (GRCm39)	Q384*	probably null	Het
Itga10	T	A	3: 96,564,793 (GRCm39)	M961K	probably benign	Het
Kcnk1	C	T	8: 126,751,967 (GRCm39)	T191I	probably benign	Het
Klhdc2	T	A	12: 69,352,484 (GRCm39)		probably null	Het
Lipc	T	C	9: 70,705,649 (GRCm39)	H478R	probably benign	Het
Lrp12	A	T	15: 39,741,646 (GRCm39)	C356*	probably null	Het
Nf1	T	A	11: 79,303,513 (GRCm39)	C397S	probably damaging	Het
Nox3	A	G	17: 3,700,396 (GRCm39)	F439S	probably damaging	Het
Or12e9	T	A	2: 87,202,701 (GRCm39)	V275E	probably benign	Het
Or13a18	T	C	7: 140,190,622 (GRCm39)	V181A	probably damaging	Het
Or3a1b	T	C	11: 74,013,039 (GRCm39)	L308P	possibly damaging	Het
Or4b12	A	T	2: 90,096,690 (GRCm39)	L28Q	probably damaging	Het
Or51b17	A	G	7: 103,542,937 (GRCm39)	W2R	probably benign	Het
Or7g29	T	G	9: 19,286,710 (GRCm39)	S156R	possibly damaging	Het
Or8b37	G	A	9: 37,959,111 (GRCm39)	V198I	probably benign	Het
Pcif1	T	C	2: 164,728,687 (GRCm39)	F288L	probably damaging	Het
Prxl2b	C	A	4: 154,982,585 (GRCm39)	R107L	probably damaging	Het
Skint7	G	T	4: 111,837,521 (GRCm39)	A100S	possibly damaging	Het
Ssu2	A	T	6: 112,351,807 (GRCm39)	L306*	probably null	Het
Tasp1	T	C	2: 139,899,341 (GRCm39)	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,595,955 (GRCm39)	D99E	probably benign	Het
Ube3b	A	G	5: 114,544,198 (GRCm39)		probably null	Het
Uox	A	G	3: 146,330,330 (GRCm39)	D162G	probably damaging	Het
Usp18	A	G	6: 121,239,651 (GRCm39)	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,685,886 (GRCm39)	N177S	probably benign	Het
Vwa2	T	A	19: 56,897,558 (GRCm39)	M621K	probably damaging	Het
Wdfy3	C	A	5: 102,046,418 (GRCm39)	D1797Y	probably damaging	Het
Ylpm1	A	T	12: 85,060,856 (GRCm39)		probably benign	Het
Zbtb9	G	A	17: 27,193,380 (GRCm39)	V262I	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
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
R5897:Khdrbs1	UTSW	4	129,614,448 (GRCm39)	missense	probably benign
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'- AGACTCTTATCACTCAACTTCTCTGGCA -3'
(R):5'- AAGCTCTGACTTACCAAGTGTGGC -3'

Sequencing Primer
(F):5'- GTGGGAGGCAAAGGTATTCTCT -3'
(R):5'- gccttcaatcccagcactc -3'

Posted On

2014-03-14