Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Hnrnpu'

197189

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpu

Ensembl Gene

ENSMUSG00000039630

Gene Name

heterogeneous nuclear ribonucleoprotein U

Synonyms

Sp120, scaffold attachment factor A, Hnrpu

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

178148673-178165362 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to G at 178152806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027781] [ENSMUST00000037748] [ENSMUST00000161769]

AlphaFold

Q8VEK3

Predicted Effect

probably benign
Transcript: ENSMUST00000027781

SMART Domains

Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500

Domain	Start	End	E-Value	Type
Pfam:DUF3767	9	104	5.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037748

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630

Domain	Start	End	E-Value	Type
SAP	8	42	3.57e-11	SMART
low complexity region	70	96	N/A	INTRINSIC
low complexity region	101	154	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
SPRY	307	439	2.35e-34	SMART
Pfam:AAA_33	475	619	2e-30	PFAM
coiled coil region	626	653	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC
low complexity region	676	732	N/A	INTRINSIC
low complexity region	736	750	N/A	INTRINSIC
low complexity region	753	791	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159117

Predicted Effect

probably benign
Transcript: ENSMUST00000161769

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630

Domain	Start	End	E-Value	Type
SAP	8	42	3.57e-11	SMART
low complexity region	70	96	N/A	INTRINSIC
low complexity region	101	154	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
SPRY	307	439	2.35e-34	SMART
Pfam:AAA_33	475	619	6.7e-31	PFAM
coiled coil region	626	653	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC
low complexity region	676	732	N/A	INTRINSIC
low complexity region	736	750	N/A	INTRINSIC
low complexity region	753	773	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162916

Predicted Effect

probably benign
Transcript: ENSMUST00000188044

Predicted Effect

probably benign
Transcript: ENSMUST00000189450

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality, delayed embryonic development, and failure of chorioallantoic fusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	C	7: 29,260,131 (GRCm39)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,244,995 (GRCm39)	M119T	probably damaging	Het
Aadacl2	A	G	3: 59,924,871 (GRCm39)		probably null	Het
Abca9	C	T	11: 110,021,542 (GRCm39)	W1056*	probably null	Het
Adam20	A	C	8: 41,249,698 (GRCm39)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 84,656,666 (GRCm39)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,904,638 (GRCm39)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,580,580 (GRCm39)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,602,333 (GRCm39)	E89G	probably benign	Het
Aldh16a1	G	A	7: 44,796,732 (GRCm39)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,372,443 (GRCm39)	K210E	probably benign	Het
Baz2b	T	C	2: 59,836,480 (GRCm39)	T18A	unknown	Het
Bub1	A	C	2: 127,645,042 (GRCm39)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,731,272 (GRCm39)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,741,239 (GRCm39)	P77Q	possibly damaging	Het
Cfap410	G	T	10: 77,818,778 (GRCm39)	A150S	probably benign	Het
Chga	T	A	12: 102,527,959 (GRCm39)	M150K	probably benign	Het
Chmp3	A	G	6: 71,554,791 (GRCm39)	E162G	probably benign	Het
Clip3	A	G	7: 29,996,861 (GRCm39)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,511,867 (GRCm39)		probably benign	Het
Cuedc2	C	T	19: 46,320,079 (GRCm39)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,087,627 (GRCm39)	F428V	probably damaging	Het
Ddx60	A	G	8: 62,427,210 (GRCm39)	I762V	possibly damaging	Het
Def6	G	A	17: 28,439,160 (GRCm39)	R257Q	probably benign	Het
Dkkl1	A	T	7: 44,860,819 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,677,625 (GRCm39)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm39)	R33C	probably benign	Het
Elavl2	T	A	4: 91,141,715 (GRCm39)	Y269F	probably damaging	Het
Esco2	A	G	14: 66,068,711 (GRCm39)	S200P	possibly damaging	Het
Fcrl1	T	A	3: 87,292,626 (GRCm39)		probably benign	Het
Fhod1	C	A	8: 106,056,309 (GRCm39)	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,383,796 (GRCm39)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,410,907 (GRCm39)		probably null	Het
Fpr-rs7	T	C	17: 20,334,277 (GRCm39)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,797,844 (GRCm39)		probably benign	Het
Gm4841	A	T	18: 60,404,020 (GRCm39)	Y24*	probably null	Het
Greb1	G	A	12: 16,740,895 (GRCm39)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,800,590 (GRCm39)	C2076Y	probably damaging	Het
Ice2	T	C	9: 69,322,930 (GRCm39)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,571,593 (GRCm39)	Q288L	probably damaging	Het
Ift56	T	A	6: 38,386,411 (GRCm39)	D377E	possibly damaging	Het
Ik	T	C	18: 36,889,871 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,063,445 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,577,972 (GRCm39)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,697,362 (GRCm39)	T87A	probably damaging	Het
Lama5	G	A	2: 179,837,274 (GRCm39)		probably benign	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,374,682 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,845,944 (GRCm39)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,809,908 (GRCm39)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,111,823 (GRCm39)	D565G	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Msrb2	T	A	2: 19,388,114 (GRCm39)	D87E	probably benign	Het
Muc20	T	C	16: 32,614,511 (GRCm39)	T289A	possibly damaging	Het
Myo15a	C	A	11: 60,369,238 (GRCm39)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 108,088,421 (GRCm39)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,348,972 (GRCm39)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,210,738 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,096,793 (GRCm39)	E1334G	probably damaging	Het
Odad2	A	T	18: 7,127,388 (GRCm39)	C942S	probably damaging	Het
Or52e8b	A	T	7: 104,673,370 (GRCm39)	N272K	probably benign	Het
Or5an1c	T	A	19: 12,218,819 (GRCm39)	I69F	probably benign	Het
Or6c6c	T	C	10: 129,541,574 (GRCm39)	Y276H	probably benign	Het
Or9s13	G	A	1: 92,548,342 (GRCm39)	G238E	possibly damaging	Het
Or9s14	A	T	1: 92,535,831 (GRCm39)	N91Y	possibly damaging	Het
P4ha3	A	T	7: 99,949,898 (GRCm39)		probably null	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,710,083 (GRCm39)	Y411N	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Phrf1	T	A	7: 140,812,369 (GRCm39)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,778,196 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,769,234 (GRCm39)		probably benign	Het
Plxna2	A	G	1: 194,493,278 (GRCm39)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,843,254 (GRCm39)	T183I	probably damaging	Het
Prxl2b	A	T	4: 154,981,814 (GRCm39)	V151D	probably damaging	Het
Ptger4	A	T	15: 5,264,576 (GRCm39)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm39)		probably benign	Het
Rdh7	A	G	10: 127,720,590 (GRCm39)	S261P	probably benign	Het
Reg3a	A	G	6: 78,360,269 (GRCm39)	T150A	probably benign	Het
Rnf111	A	G	9: 70,383,394 (GRCm39)	S180P	probably benign	Het
Rnf17	A	G	14: 56,759,856 (GRCm39)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,085,873 (GRCm39)	Y117*	probably null	Het
Rnps1-ps	A	T	6: 7,983,124 (GRCm39)		noncoding transcript	Het
Rogdi	T	C	16: 4,828,369 (GRCm39)	T165A	probably benign	Het
Rpe65	A	G	3: 159,328,485 (GRCm39)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,494,405 (GRCm39)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm39)	E257D	probably benign	Het
Sim1	C	A	10: 50,857,649 (GRCm39)	C466*	probably null	Het
Spi1	T	A	2: 90,929,867 (GRCm39)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,873,909 (GRCm39)		probably benign	Het
Tbcb	A	G	7: 29,931,037 (GRCm39)	Y28H	probably benign	Het
Tecta	C	T	9: 42,254,927 (GRCm39)	C1752Y	probably damaging	Het
Tep1	T	C	14: 51,067,079 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm39)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Trappc14	T	C	5: 138,260,739 (GRCm39)		probably null	Het
Trim13	G	T	14: 61,843,068 (GRCm39)	A362S	probably benign	Het
Trim47	T	A	11: 116,000,646 (GRCm39)	D134V	probably damaging	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,775,415 (GRCm39)	A222S	possibly damaging	Het
Wdr17	A	G	8: 55,143,249 (GRCm39)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm39)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,751,785 (GRCm39)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,521,788 (GRCm39)	K419R	probably benign	Het

Other mutations in Hnrnpu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03117:Hnrnpu	APN	1	178,158,339 (GRCm39)	unclassified	probably benign
R1136:Hnrnpu	UTSW	1	178,158,790 (GRCm39)	unclassified	probably benign
R1205:Hnrnpu	UTSW	1	178,159,734 (GRCm39)	unclassified	probably benign
R1317:Hnrnpu	UTSW	1	178,157,822 (GRCm39)	unclassified	probably benign
R1318:Hnrnpu	UTSW	1	178,157,822 (GRCm39)	unclassified	probably benign
R3160:Hnrnpu	UTSW	1	178,158,690 (GRCm39)	unclassified	probably benign
R3161:Hnrnpu	UTSW	1	178,158,690 (GRCm39)	unclassified	probably benign
R3162:Hnrnpu	UTSW	1	178,158,690 (GRCm39)	unclassified	probably benign
R3162:Hnrnpu	UTSW	1	178,158,690 (GRCm39)	unclassified	probably benign
R4408:Hnrnpu	UTSW	1	178,158,368 (GRCm39)	unclassified	probably benign
R4667:Hnrnpu	UTSW	1	178,159,746 (GRCm39)	unclassified	probably benign
R4833:Hnrnpu	UTSW	1	178,161,459 (GRCm39)	unclassified	probably benign
R4906:Hnrnpu	UTSW	1	178,156,938 (GRCm39)	intron	probably benign
R4923:Hnrnpu	UTSW	1	178,159,017 (GRCm39)	unclassified	probably benign
R5000:Hnrnpu	UTSW	1	178,156,941 (GRCm39)	intron	probably benign
R5256:Hnrnpu	UTSW	1	178,163,458 (GRCm39)	missense	unknown
R5307:Hnrnpu	UTSW	1	178,164,877 (GRCm39)	missense	unknown
R5911:Hnrnpu	UTSW	1	178,157,737 (GRCm39)	unclassified	probably benign
R6931:Hnrnpu	UTSW	1	178,158,997 (GRCm39)	unclassified	probably benign
R7061:Hnrnpu	UTSW	1	178,163,691 (GRCm39)	missense	unknown
R7077:Hnrnpu	UTSW	1	178,159,756 (GRCm39)	missense	unknown
R7391:Hnrnpu	UTSW	1	178,164,643 (GRCm39)	missense	unknown
R7423:Hnrnpu	UTSW	1	178,156,849 (GRCm39)	intron	probably benign
R7991:Hnrnpu	UTSW	1	178,159,871 (GRCm39)	missense	unknown
R8037:Hnrnpu	UTSW	1	178,159,917 (GRCm39)	missense	unknown
R8161:Hnrnpu	UTSW	1	178,165,067 (GRCm39)	missense	possibly damaging	0.95
R8265:Hnrnpu	UTSW	1	178,159,725 (GRCm39)	missense	unknown
R8537:Hnrnpu	UTSW	1	178,161,199 (GRCm39)	unclassified	probably benign
Z1176:Hnrnpu	UTSW	1	178,159,780 (GRCm39)	missense	unknown
Z1186:Hnrnpu	UTSW	1	178,164,591 (GRCm39)	missense	probably benign	0.23

Predicted Primers

Posted On

2014-05-23