Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Khdrbs1'

515036

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

044527-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R6377 (G1)

Quality Score

102.008

Status

Not validated

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129635890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 22 (D22Y)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

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

AlphaFold

Q60749

Predicted Effect

probably damaging
Transcript: ENSMUST00000066257
AA Change: D22Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: D22Y

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 damaging
Transcript: ENSMUST00000129342
AA Change: D22Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: D22Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139281

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

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
Ankib1	A	G	5: 3,743,855 (GRCm39)	S812P	possibly damaging	Het
Atp2c2	A	G	8: 120,453,093 (GRCm39)	E159G	probably benign	Het
Atrn	A	G	2: 130,821,889 (GRCm39)	I861V	probably damaging	Het
Clip1	A	G	5: 123,741,717 (GRCm39)	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,975,608 (GRCm39)	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,657 (GRCm39)	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,329,748 (GRCm39)		probably null	Het
Cyp4a14	A	G	4: 115,353,280 (GRCm39)	Y11H	probably benign	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,618,317 (GRCm39)	Y242F	probably benign	Het
Drd3	G	T	16: 43,641,670 (GRCm39)	G329*	probably null	Het
Duxf1	T	C	10: 58,059,494 (GRCm39)		probably benign	Het
Dysf	T	A	6: 83,985,945 (GRCm39)	S17T	probably benign	Het
Eno1	A	T	4: 150,333,009 (GRCm39)	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,518,971 (GRCm39)	V190I	probably benign	Het
Fkbp15	T	C	4: 62,242,429 (GRCm39)	T508A	probably damaging	Het
Fndc1	A	G	17: 7,988,567 (GRCm39)	V1165A	unknown	Het
Foxj3	A	T	4: 119,430,945 (GRCm39)		probably null	Het
Gabarap	T	C	11: 69,882,630 (GRCm39)		probably null	Het
Gm19410	T	A	8: 36,270,736 (GRCm39)	L1221*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Igf1r	A	T	7: 67,850,998 (GRCm39)	Y931F	probably benign	Het
Il23r	A	T	6: 67,400,636 (GRCm39)	S565T	probably damaging	Het
Ipo8	A	T	6: 148,717,995 (GRCm39)	Y209*	probably null	Het
Jph2	C	T	2: 163,181,632 (GRCm39)	G511R	probably benign	Het
Kif5b	A	T	18: 6,212,562 (GRCm39)	L754Q	probably damaging	Het
Ksr1	C	T	11: 78,927,320 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 69,084,918 (GRCm39)	V610F	probably benign	Het
Lars2	A	G	9: 123,283,825 (GRCm39)	T698A	probably benign	Het
Lonp1	A	G	17: 56,928,961 (GRCm39)	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,468,128 (GRCm39)	D925E	probably damaging	Het
Lsg1	A	G	16: 30,393,386 (GRCm39)	L187P	possibly damaging	Het
Mki67	A	T	7: 135,298,050 (GRCm39)	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,315,271 (GRCm39)	I305T	probably damaging	Het
Mtbp	A	G	15: 55,421,016 (GRCm39)	M1V	probably null	Het
Myadml2	C	A	11: 120,538,538 (GRCm39)	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703 (GRCm39)	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 79,250,739 (GRCm39)	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,449,339 (GRCm39)	Y147F	probably benign	Het
Or4c11c	C	T	2: 88,661,613 (GRCm39)	R51*	probably null	Het
Pet100	T	C	8: 3,672,370 (GRCm39)	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,869 (GRCm39)	V75A	probably benign	Het
Ptprs	A	T	17: 56,725,935 (GRCm39)	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,832,984 (GRCm39)	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,287,635 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,462,530 (GRCm39)	C4839S	probably damaging	Het
Scai	A	C	2: 38,992,340 (GRCm39)	D379E	probably benign	Het
Scd2	G	T	19: 44,288,198 (GRCm39)	G197*	probably null	Het
Sdr39u1	A	C	14: 56,135,166 (GRCm39)	I259S	probably benign	Het
Slco1a5	A	T	6: 142,187,906 (GRCm39)		probably null	Het
Sp1	A	T	15: 102,339,318 (GRCm39)	T733S	probably benign	Het
Tecta	A	G	9: 42,255,051 (GRCm39)	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,124,975 (GRCm39)	W240L	probably damaging	Het
Trarg1	T	C	11: 76,571,355 (GRCm39)	S124P	probably damaging	Het
Trim50	A	G	5: 135,382,454 (GRCm39)	K102R	probably benign	Het
Utrn	A	G	10: 12,619,827 (GRCm39)	Y278H	probably damaging	Het
Vinac1	T	A	2: 128,878,731 (GRCm39)	D1065V	unknown	Het
Vmn2r109	A	C	17: 20,784,796 (GRCm39)		probably null	Het
Zbed5	T	C	5: 129,932,210 (GRCm39)	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,711,304 (GRCm39)	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 10,802,418 (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
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
R6983:Khdrbs1	UTSW	4	129,614,635 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GCAGGTACTTATTCTCCGGC -3'
(R):5'- TCCAACTGGGGACTTTGTTC -3'

Sequencing Primer
(F):5'- ATCTTGACCGCGGCTGTG -3'
(R):5'- CTCCGCGGAGAAACTCAAGG -3'

Posted On

2018-05-04