Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Hnrnpu'

539985

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

045326-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178148673-178165362 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 178158997 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: T530A

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: T530A

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: T530A

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: T530A

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,118,561 (GRCm39)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,246,523 (GRCm39)	S6R	unknown	Het
Abca6	T	A	11: 110,135,154 (GRCm39)	L210F	probably benign	Het
Abcc4	T	C	14: 118,765,400 (GRCm39)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,100,884 (GRCm39)	D811G	possibly damaging	Het
Akna	A	G	4: 63,305,339 (GRCm39)	S476P	probably benign	Het
Ankrd49	T	C	9: 14,694,122 (GRCm39)	N15S	probably benign	Het
Apcdd1	A	G	18: 63,066,979 (GRCm39)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,142,625 (GRCm39)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,373,138 (GRCm39)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm39)		probably null	Het
Axl	T	C	7: 25,460,858 (GRCm39)	D717G	probably damaging	Het
Bub1	T	A	2: 127,643,302 (GRCm39)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,259,195 (GRCm39)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,579,002 (GRCm39)	C289S	probably damaging	Het
Coasy	A	G	11: 100,974,407 (GRCm39)	H191R	probably benign	Het
Cyp11a1	A	T	9: 57,932,403 (GRCm39)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,439 (GRCm39)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,333,018 (GRCm39)		probably null	Het
Dnah9	A	T	11: 66,008,452 (GRCm39)	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,682,487 (GRCm39)	Q505H	probably benign	Het
Fam135a	T	A	1: 24,124,568 (GRCm39)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,329,260 (GRCm39)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,871,238 (GRCm39)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,888,914 (GRCm39)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,919,966 (GRCm39)	I390V	probably benign	Het
Gemin4	A	G	11: 76,101,782 (GRCm39)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,723,993 (GRCm39)	D647V	probably damaging	Het
Gpr84	A	C	15: 103,217,441 (GRCm39)	L212R	probably damaging	Het
Hspg2	G	T	4: 137,268,031 (GRCm39)	C2116F	probably damaging	Het
Icam4	T	A	9: 20,941,747 (GRCm39)	V249E	probably damaging	Het
Itga1	T	C	13: 115,138,099 (GRCm39)	N429D	probably benign	Het
Kcns1	T	C	2: 164,006,758 (GRCm39)	T402A	probably damaging	Het
Ky	T	A	9: 102,414,826 (GRCm39)	V246E	probably damaging	Het
Marchf1	A	G	8: 66,921,144 (GRCm39)	T529A	probably benign	Het
Med18	C	G	4: 132,187,194 (GRCm39)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,696,249 (GRCm39)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,350,472 (GRCm39)	I470T	probably benign	Het
Muc1	C	T	3: 89,136,466 (GRCm39)		probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm39)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,378,192 (GRCm39)	L341*	probably null	Het
Nacad	A	G	11: 6,551,877 (GRCm39)	F438S	probably benign	Het
Necap2	C	A	4: 140,805,523 (GRCm39)		probably null	Het
Nifk	T	C	1: 118,260,078 (GRCm39)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,201,293 (GRCm39)	I73V	probably benign	Het
Nup50l	T	C	6: 96,142,529 (GRCm39)	T172A	possibly damaging	Het
Oog3	C	T	4: 143,885,923 (GRCm39)	C225Y	probably benign	Het
Or2d2	A	G	7: 106,728,108 (GRCm39)	L164P	probably damaging	Het
Or4b13	A	T	2: 90,083,121 (GRCm39)	C70*	probably null	Het
Or4c100	T	A	2: 88,356,538 (GRCm39)	C204S	possibly damaging	Het
Or4p18	G	A	2: 88,232,408 (GRCm39)	T290I	probably benign	Het
Plagl2	C	A	2: 153,077,863 (GRCm39)	K39N	probably benign	Het
Plcg2	T	A	8: 118,284,058 (GRCm39)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,161,786 (GRCm39)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,478,764 (GRCm39)	T442S	probably benign	Het
Prr14l	G	A	5: 32,988,035 (GRCm39)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,594,797 (GRCm39)	V63I	probably benign	Het
Psmc6	T	A	14: 45,581,182 (GRCm39)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,091,885 (GRCm39)	T405A	probably benign	Het
Rbm33	G	A	5: 28,615,743 (GRCm39)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Scarb1	T	A	5: 125,361,783 (GRCm39)	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,394,186 (GRCm39)	S19G	probably benign	Het
Slc44a5	T	C	3: 153,964,143 (GRCm39)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,552,139 (GRCm39)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,628,764 (GRCm39)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,259,467 (GRCm39)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,531,805 (GRCm39)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,183,149 (GRCm39)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,244,644 (GRCm39)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,843,640 (GRCm39)	M198K	probably benign	Het
Ttll8	A	G	15: 88,798,507 (GRCm39)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,460,580 (GRCm39)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,435,269 (GRCm39)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,697,016 (GRCm39)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,932,170 (GRCm39)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,380,553 (GRCm39)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,252,860 (GRCm39)		probably null	Het
Zpld2	A	T	4: 133,920,464 (GRCm39)	M567K	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
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'- GCAGCAGCAGACACATTTG -3'
(R):5'- ACAGGGTCAGAAATTATCCTGGG -3'

Sequencing Primer
(F):5'- CACATTTGTCTTGAGGGGAAAATG -3'
(R):5'- GGTCAGAAATTATCCTGGGTTAATG -3'

Posted On

2018-11-06