Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Khdrbs1'

326663

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

042003-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R4402 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

129596957-129636096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129635889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 22 (D22A)

Ref Sequence

ENSEMBL: ENSMUSP00000115402 (fasta)

Gene Model

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

AlphaFold

Q60749

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066257
AA Change: D22A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: D22A

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: D22A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: D22A

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,020 (GRCm39)	H167Q	probably benign	Het
Adamts20	T	C	15: 94,277,827 (GRCm39)	T212A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atl1	T	G	12: 70,005,973 (GRCm39)	D426E	probably benign	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Canx	T	C	11: 50,195,265 (GRCm39)	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353 (GRCm39)	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,658,609 (GRCm39)	T787A	probably benign	Het
Clstn3	T	C	6: 124,433,939 (GRCm39)	Y407C	probably damaging	Het
Copa	C	A	1: 171,929,791 (GRCm39)	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Def6	A	G	17: 28,438,950 (GRCm39)	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Eif5	A	T	12: 111,508,183 (GRCm39)	K161N	probably benign	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gen1	A	T	12: 11,292,363 (GRCm39)	N475K	possibly damaging	Het
Gm14569	T	C	X: 35,697,146 (GRCm39)	Y521C	probably benign	Het
Gm6124	T	A	7: 38,870,529 (GRCm39)		noncoding transcript	Het
Gpt2	A	T	8: 86,252,188 (GRCm39)	D501V	probably benign	Het
Gstm2	T	C	3: 107,893,370 (GRCm39)	K31R	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga1	T	A	13: 115,138,102 (GRCm39)	M428L	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,076,867 (GRCm39)	W139R	probably benign	Het
Kdm7a	T	A	6: 39,143,602 (GRCm39)	R380W	probably null	Het
Liph	A	T	16: 21,795,000 (GRCm39)	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,529,456 (GRCm39)	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,291,982 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,709,915 (GRCm39)	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,856,311 (GRCm39)	F1030L	probably damaging	Het
Naca	C	T	10: 127,879,341 (GRCm39)		probably benign	Het
Nob1	A	T	8: 108,145,120 (GRCm39)		probably benign	Het
Nutm1	A	C	2: 112,080,154 (GRCm39)	I587R	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,428,455 (GRCm39)	K143E	probably benign	Het
Pcnt	T	C	10: 76,228,227 (GRCm39)	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,646,365 (GRCm39)	D390E	probably benign	Het
Pkhd1	A	G	1: 20,309,635 (GRCm39)	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Plekhn1	T	C	4: 156,309,813 (GRCm39)	T135A	probably damaging	Het
Pola1	T	C	X: 92,605,029 (GRCm39)	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,341,618 (GRCm39)	T416K	probably benign	Het
Psmd1	A	G	1: 86,003,673 (GRCm39)	I153V	possibly damaging	Het
Rcan2	A	G	17: 44,264,361 (GRCm39)	D7G	probably benign	Het
Rexo5	T	C	7: 119,433,599 (GRCm39)	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,530,802 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,333,985 (GRCm39)	S273P	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,293 (GRCm39)	K256R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tnfaip2	T	C	12: 111,416,285 (GRCm39)	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Wdr35	A	G	12: 9,039,981 (GRCm39)	D362G	probably damaging	Het
Wwp2	T	C	8: 108,184,610 (GRCm39)	V106A	probably benign	Het
Zfp40	T	A	17: 23,395,693 (GRCm39)	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,393,848 (GRCm39)	M1L	possibly damaging	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
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'- GCAGGTACTTATTCTCCGGCTC -3'
(R):5'- AACTGGGGACTTTGTTCTCCG -3'

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

Posted On

2015-07-07