Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Khdrbs1'

268980

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs1

Ensembl Gene

ENSMUSG00000028790

Gene Name

KH domain containing, RNA binding, signal transduction associated 1

Synonyms

Sam68, p62

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129703164-129742303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129720791 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 323 (I323T)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066257
AA Change: I323T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: I323T

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

possibly damaging
Transcript: ENSMUST00000129342
AA Change: I323T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: I323T

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

0.0612

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Khdrbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Khdrbs1	APN	4	129725669	missense	probably benign	0.00
IGL01801:Khdrbs1	APN	4	129741781	missense	probably benign
IGL03163:Khdrbs1	APN	4	129725715	missense	probably benign	0.40
R1163:Khdrbs1	UTSW	4	129725586	missense	possibly damaging	0.48
R1350:Khdrbs1	UTSW	4	129720752	missense	probably benign
R2059:Khdrbs1	UTSW	4	129725721	missense	probably damaging	1.00
R2192:Khdrbs1	UTSW	4	129720037	critical splice donor site	probably null
R2518:Khdrbs1	UTSW	4	129720747	missense	probably benign
R3000:Khdrbs1	UTSW	4	129725663	missense	probably damaging	1.00
R4402:Khdrbs1	UTSW	4	129742096	missense	possibly damaging	0.93
R4623:Khdrbs1	UTSW	4	129720842	missense	probably benign	0.07
R5138:Khdrbs1	UTSW	4	129741854	missense	probably benign	0.13
R5384:Khdrbs1	UTSW	4	129741936	missense	possibly damaging	0.70
R5863:Khdrbs1	UTSW	4	129722700	missense	probably damaging	0.99
R5897:Khdrbs1	UTSW	4	129720655	missense	probably benign
R6018:Khdrbs1	UTSW	4	129720094	missense	probably benign
R6153:Khdrbs1	UTSW	4	129716172	missense	probably damaging	0.99
R6185:Khdrbs1	UTSW	4	129742275	start gained	probably benign
R6377:Khdrbs1	UTSW	4	129742097	missense	probably damaging	0.98
R6983:Khdrbs1	UTSW	4	129720842	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGGAAGAAAAGGTGCATTGTTCAA -3'
(R):5'- GGTAGTGGGAAGAACTTTAAGGTT -3'

Sequencing Primer
(F):5'- TCTCTGAATCCCAGCTGT -3'
(R):5'- CTACACAGGAGGCTTTGTCTCAAG -3'

Posted On

2015-02-19