Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Hnrnpu'

460969

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

044108-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178148673-178165362 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 178157737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VEK3

Predicted Effect

unknown
Transcript: ENSMUST00000037748
AA Change: Y757C

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: Y757C

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: ENSMUST00000146362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150825

Predicted Effect

unknown
Transcript: ENSMUST00000161769
AA Change: Y757C

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: Y757C

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

unknown
Transcript: ENSMUST00000188044
AA Change: Y68C

Predicted Effect

probably benign
Transcript: ENSMUST00000189450

Meta Mutation Damage Score

0.0810

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Afg3l1	G	A	8: 124,226,778 (GRCm39)	V563I	possibly damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Grik4	C	A	9: 42,502,720 (GRCm39)	V468F	probably damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Gulp1	A	T	1: 44,793,534 (GRCm39)	Q65L	possibly damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc39a	C	T	4: 109,280,168 (GRCm39)	P150L	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
R1778:Hnrnpu	UTSW	1	178,152,806 (GRCm39)	critical splice donor site	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
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

PCR Primer
(F):5'- CCTCGTCCTCTGAAGTTCTATGAAAG -3'
(R):5'- TTAGCTCCTGGGAATCGTGG -3'

Sequencing Primer
(F):5'- CTCAAGCAATGGTTGGCT -3'
(R):5'- CCTGGGAATCGTGGTGGATATAATAG -3'

Posted On

2017-02-28