Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Hnrnpu'

651715

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

046032-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178148673-178165362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 178159871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 403 (D403E)

Ref Sequence

ENSEMBL: ENSMUSP00000047571 (fasta)

Gene Model

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

AlphaFold

Q8VEK3

Predicted Effect

unknown
Transcript: ENSMUST00000037748
AA Change: D403E

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: D403E

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

unknown
Transcript: ENSMUST00000161769
AA Change: D403E

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: D403E

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

probably benign
Transcript: ENSMUST00000188044

Predicted Effect

probably benign
Transcript: ENSMUST00000189450

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,726 (GRCm39)	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,172,537 (GRCm39)	L624P	probably damaging	Het
Akap9	A	G	5: 4,114,949 (GRCm39)		probably null	Het
Ap2a2	A	G	7: 141,189,760 (GRCm39)	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,534,531 (GRCm39)	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,693,257 (GRCm39)	S53P	probably damaging	Het
Caly	T	C	7: 139,651,513 (GRCm39)	D116G	possibly damaging	Het
Ccdc121rt2	G	A	5: 112,598,791 (GRCm39)	R446H	probably benign	Het
Ccdc168	T	A	1: 44,098,869 (GRCm39)	H743L	probably benign	Het
Ccdc81	G	A	7: 89,539,609 (GRCm39)	A209V	probably benign	Het
Cdc14a	A	G	3: 116,101,887 (GRCm39)	S347P	probably benign	Het
Cdh9	G	T	15: 16,828,489 (GRCm39)	A194S	probably damaging	Het
Clca3a2	A	G	3: 144,519,756 (GRCm39)	V206A	probably benign	Het
Clca4a	A	T	3: 144,658,500 (GRCm39)	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,746,485 (GRCm39)	E282G	probably damaging	Het
Cmtm2b	T	A	8: 105,056,419 (GRCm39)	C109*	probably null	Het
Crtac1	T	C	19: 42,322,399 (GRCm39)	N114D	probably benign	Het
Dennd1b	T	C	1: 139,013,634 (GRCm39)	Y168H		Het
Dock6	T	C	9: 21,757,858 (GRCm39)	D82G	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Erfl	G	A	7: 24,627,975 (GRCm39)	P185S	possibly damaging	Het
Fh1	T	C	1: 175,437,337 (GRCm39)	Y254C	probably damaging	Het
H2-Q1	T	A	17: 35,540,356 (GRCm39)	L147Q	probably damaging	Het
H3c8	T	A	13: 23,719,887 (GRCm39)	M91K	probably benign	Het
Il34	T	C	8: 111,476,122 (GRCm39)	K33E	probably benign	Het
Klhl20	A	G	1: 160,934,434 (GRCm39)	V195A	possibly damaging	Het
Lair1	G	T	7: 4,031,969 (GRCm39)	T46N	probably damaging	Het
Lama4	A	G	10: 38,921,805 (GRCm39)	E442G	possibly damaging	Het
Lifr	A	T	15: 7,202,963 (GRCm39)	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,908,771 (GRCm39)	I14T	probably benign	Het
Or13p10	T	A	4: 118,523,489 (GRCm39)	C258*	probably null	Het
Or1ad8	T	G	11: 50,898,071 (GRCm39)	S91A	possibly damaging	Het
Or4z4	A	C	19: 12,076,190 (GRCm39)	V271G	possibly damaging	Het
Or51h7	A	G	7: 102,591,760 (GRCm39)	L8P	probably benign	Het
Or5an10	T	A	19: 12,275,639 (GRCm39)	I286F	probably damaging	Het
Or8s10	T	C	15: 98,335,419 (GRCm39)	I23T	probably benign	Het
Papss2	G	T	19: 32,629,403 (GRCm39)	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,145,909 (GRCm39)	S667P	probably damaging	Het
Pcolce	A	T	5: 137,607,390 (GRCm39)	S75T	probably benign	Het
Phf20l1	A	C	15: 66,502,768 (GRCm39)	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,791,595 (GRCm39)	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,618,152 (GRCm39)	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,509,750 (GRCm39)	Y195C	probably benign	Het
Pramel6	T	A	2: 87,340,031 (GRCm39)	L265Q	probably benign	Het
Prc1	A	T	7: 79,961,969 (GRCm39)	N489I	possibly damaging	Het
Prss59	A	C	6: 40,905,444 (GRCm39)		probably null	Het
Psg22	A	C	7: 18,460,861 (GRCm39)	N497H	probably damaging	Het
Pum3	T	A	19: 27,389,620 (GRCm39)	I411F	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	A	T	10: 39,739,734 (GRCm39)	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,310,540 (GRCm39)	K423N		Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Septin3	A	G	15: 82,170,654 (GRCm39)	E216G	probably benign	Het
Sppl2c	T	C	11: 104,078,640 (GRCm39)	V480A	possibly damaging	Het
Sppl2c	A	G	11: 104,078,189 (GRCm39)	T330A	probably benign	Het
Srebf2	A	G	15: 82,088,253 (GRCm39)	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,845,715 (GRCm39)	E61V	probably damaging	Het
Tnc	T	A	4: 63,926,983 (GRCm39)	T848S	probably benign	Het
Trmt5	A	G	12: 73,329,439 (GRCm39)	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,132,583 (GRCm39)	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646 (GRCm39)	T59A	unknown	Het
Ubash3a	T	A	17: 31,456,869 (GRCm39)	L510M	probably benign	Het
Ubr3	T	A	2: 69,783,200 (GRCm39)	I713N	probably damaging	Het
Upf3a	A	G	8: 13,842,166 (GRCm39)	E194G	probably damaging	Het
Usp22	A	T	11: 61,065,588 (GRCm39)	Y42N	probably benign	Het
Vav3	T	A	3: 109,470,478 (GRCm39)	C555S	probably damaging	Het
Vmn1r210	T	A	13: 23,011,684 (GRCm39)	M201L	probably benign	Het
Wdr64	C	A	1: 175,554,051 (GRCm39)	Q194K	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
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
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
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'- GGTCCTCTAAGGGGACATTTTG -3'
(R):5'- GTGAGTTGAGAGACCTTACAGG -3'

Sequencing Primer
(F):5'- GGGACATTTTGGATAAAAGTACAGTC -3'
(R):5'- CGATGGCTCAGCAGTTAAGATTATTG -3'

Posted On

2020-09-15