Mutagenetix > Incidental Mutation

Incidental Mutation 'R2192:Khdrbs1'

238190

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

040194-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R2192 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 129613830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066516 (fasta)

Gene Model

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

AlphaFold

Q60749

Predicted Effect

probably null
Transcript: ENSMUST00000066257

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790

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

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,289 (GRCm39)	M267K	probably damaging	Het
Aen	T	C	7: 78,555,793 (GRCm39)		probably null	Het
Ano2	A	G	6: 125,992,502 (GRCm39)	D825G	probably damaging	Het
Bdh2	T	C	3: 135,001,025 (GRCm39)	S142P	probably damaging	Het
Celsr1	A	G	15: 85,800,924 (GRCm39)	L2507P	possibly damaging	Het
Ces3a	T	C	8: 105,782,212 (GRCm39)	F308S	probably benign	Het
Cfap47	C	T	X: 78,454,218 (GRCm39)	R1646Q	probably damaging	Het
Chd4	T	A	6: 125,082,320 (GRCm39)	M603K	probably damaging	Het
Cit	T	C	5: 116,106,068 (GRCm39)	V984A	probably benign	Het
Clstn3	A	T	6: 124,436,166 (GRCm39)	D194E	probably damaging	Het
Ctdp1	T	C	18: 80,492,696 (GRCm39)	R600G	probably benign	Het
Ctnnd1	C	T	2: 84,439,907 (GRCm39)	G801D	probably damaging	Het
Dgkg	A	G	16: 22,407,049 (GRCm39)	F179L	probably damaging	Het
Dlg3	G	A	X: 99,817,827 (GRCm39)	D379N	probably damaging	Het
Drd2	G	T	9: 49,314,571 (GRCm39)	R267S	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edc3	T	C	9: 57,620,826 (GRCm39)	V49A	probably damaging	Het
Ern1	G	A	11: 106,300,750 (GRCm39)	T548I	probably benign	Het
Fam186a	T	C	15: 99,838,192 (GRCm39)	D2684G	possibly damaging	Het
Fam20a	A	G	11: 109,565,449 (GRCm39)	M454T	probably benign	Het
Fbp2	A	G	13: 63,006,056 (GRCm39)	M19T	possibly damaging	Het
Frmd4b	A	T	6: 97,464,577 (GRCm39)	C47S	probably damaging	Het
Gtf2h1	T	A	7: 46,464,747 (GRCm39)	I388N	possibly damaging	Het
Hectd4	T	C	5: 121,453,206 (GRCm39)	V571A	possibly damaging	Het
Helz2	T	A	2: 180,870,841 (GRCm39)	K2832*	probably null	Het
Herc1	T	A	9: 66,372,688 (GRCm39)	D3081E	probably damaging	Het
Hmcn1	A	T	1: 150,591,566 (GRCm39)	S1878T	probably damaging	Het
Iars1	A	G	13: 49,841,605 (GRCm39)		probably null	Het
Il17rd	A	T	14: 26,816,835 (GRCm39)	K180M	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Lce3a	A	C	3: 92,832,837 (GRCm39)	S88A	unknown	Het
Lgals12	C	T	19: 7,578,606 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,399,373 (GRCm39)	T57A	probably benign	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc4c	C	G	2: 97,459,657 (GRCm39)	N94K	possibly damaging	Het
Mag	A	T	7: 30,600,066 (GRCm39)	Y571*	probably null	Het
Mbd1	T	A	18: 74,410,449 (GRCm39)	D583E	probably damaging	Het
Mill1	T	A	7: 17,998,544 (GRCm39)	Y251*	probably null	Het
Mllt10	T	C	2: 18,211,871 (GRCm39)	I928T	probably benign	Het
Ms4a18	T	C	19: 10,991,029 (GRCm39)	T22A	probably benign	Het
Mtmr14	T	C	6: 113,257,700 (GRCm39)	F250L	probably damaging	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myorg	A	G	4: 41,497,704 (GRCm39)	I642T	probably damaging	Het
Nat10	C	A	2: 103,556,522 (GRCm39)	E885D	probably benign	Het
Nbeal1	T	A	1: 60,321,054 (GRCm39)	L2055H	probably damaging	Het
Necab3	T	A	2: 154,388,999 (GRCm39)	I192F	possibly damaging	Het
Nedd4	T	A	9: 72,650,000 (GRCm39)	N783K	probably damaging	Het
Nf2	A	T	11: 4,749,899 (GRCm39)	W61R	probably damaging	Het
Nox4	T	A	7: 87,023,588 (GRCm39)	F491L	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or4c125	A	T	2: 89,170,009 (GRCm39)	Y212*	probably null	Het
Or4c127	T	A	2: 89,832,774 (GRCm39)	I8N	probably damaging	Het
Or8i2	A	G	2: 86,852,855 (GRCm39)	V11A	probably benign	Het
Osbpl5	A	T	7: 143,247,596 (GRCm39)	Y723*	probably null	Het
Otop2	T	C	11: 115,217,757 (GRCm39)	S198P	possibly damaging	Het
Pgam5	T	G	5: 110,413,785 (GRCm39)	H126P	probably damaging	Het
Phip	A	T	9: 82,753,868 (GRCm39)	N1625K	probably damaging	Het
Phospho2	T	A	2: 69,626,451 (GRCm39)	Y202*	probably null	Het
Pkd1l3	T	A	8: 110,347,156 (GRCm39)	H176Q	unknown	Het
Plxdc2	A	G	2: 16,570,147 (GRCm39)	R109G	probably damaging	Het
Prorsd1	T	C	11: 29,463,592 (GRCm39)	K57E	probably benign	Het
Rnf150	A	T	8: 83,591,020 (GRCm39)	R128W	probably damaging	Het
Samm50	G	A	15: 84,084,625 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,722,909 (GRCm39)	Y889*	probably null	Het
Slc35b1	T	C	11: 95,276,640 (GRCm39)	Y40H	probably damaging	Het
Speg	A	G	1: 75,394,371 (GRCm39)	H1722R	probably damaging	Het
Suz12	T	C	11: 79,913,024 (GRCm39)	L356P	probably damaging	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Trim2	G	A	3: 84,098,225 (GRCm39)	Q359*	probably null	Het
Ttc28	T	C	5: 111,371,362 (GRCm39)	Y635H	probably damaging	Het
Ttn	C	T	2: 76,543,549 (GRCm39)	E33146K	probably damaging	Het
Vcp	G	T	4: 42,982,547 (GRCm39)	T715K	probably benign	Het
Vmn1r230	T	A	17: 21,067,355 (GRCm39)	N181K	probably benign	Het
Vmn2r17	T	A	5: 109,582,144 (GRCm39)	M511K	possibly damaging	Het
Wdfy3	C	T	5: 102,055,408 (GRCm39)	R1554Q	possibly damaging	Het
Zfp112	A	T	7: 23,824,863 (GRCm39)	Q277L	probably damaging	Het
Zfp850	T	C	7: 27,684,620 (GRCm39)	E42G	probably damaging	Het
Zfp976	G	A	7: 42,262,695 (GRCm39)	P381S	probably damaging	Het
Zzef1	A	T	11: 72,800,982 (GRCm39)		probably null	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
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'- CGAGAACTGTTCATCAACTAGCTTC -3'
(R):5'- TTCACTCCACAGGGGTTATTAG -3'

Sequencing Primer
(F):5'- TGTTCATCAACTAGCTTCAAAACCTC -3'
(R):5'- GTATTTTTGAGAATTTTCCGTAGCC -3'

Posted On

2014-10-02