Mutagenetix > Incidental Mutation

Incidental Mutation 'R8161:Hnrnpu'

633494

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

067587-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8161 (G1)

Quality Score

136.008

Status

Not validated

Chromosome

Chromosomal Location

178148673-178165362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 178165067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 24 (R24S)

Ref Sequence

ENSEMBL: ENSMUSP00000047571 (fasta)

Gene Model

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

AlphaFold

Q8VEK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037748
AA Change: R24S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: R24S

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

possibly damaging
Transcript: ENSMUST00000161769
AA Change: R24S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: R24S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.8%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	C	9: 101,815,968 (GRCm39)	L51P	probably damaging	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ank2	T	C	3: 126,825,778 (GRCm39)	N371S		Het
Arhgef5	T	A	6: 43,260,885 (GRCm39)	C1437S	probably damaging	Het
Atp8b1	A	T	18: 64,690,058 (GRCm39)	L558Q	probably damaging	Het
Bsn	T	C	9: 108,016,729 (GRCm39)	K94R	probably benign	Het
Cacna2d1	T	A	5: 16,519,935 (GRCm39)	V435D	probably damaging	Het
Chd3	T	C	11: 69,241,711 (GRCm39)	N1474S	probably damaging	Het
Chd7	A	G	4: 8,855,038 (GRCm39)	D2089G	probably damaging	Het
Col11a2	T	A	17: 34,270,264 (GRCm39)	M492K	unknown	Het
Col16a1	A	T	4: 129,954,262 (GRCm39)	T502S	unknown	Het
Csl	A	T	10: 99,594,182 (GRCm39)	N294K	probably damaging	Het
Dnah5	T	A	15: 28,350,850 (GRCm39)	M2624K	possibly damaging	Het
Dync1li1	C	A	9: 114,535,251 (GRCm39)	H172N	probably damaging	Het
Eef1a1	C	T	9: 78,387,672 (GRCm39)	V59I	probably benign	Het
Ephb1	T	C	9: 102,072,012 (GRCm39)	K256E	probably damaging	Het
Erlin2	C	A	8: 27,518,970 (GRCm39)	T78N	probably damaging	Het
Fbxo10	A	G	4: 45,044,793 (GRCm39)	L614P	probably damaging	Het
Fer1l4	A	T	2: 155,866,555 (GRCm39)	D1555E	probably benign	Het
Gabrr2	A	G	4: 33,082,566 (GRCm39)	D230G	probably damaging	Het
Gen1	A	T	12: 11,291,465 (GRCm39)	S840T	probably benign	Het
Glyctk	G	A	9: 106,034,892 (GRCm39)	T58I	probably benign	Het
Gm12258	G	A	11: 58,750,138 (GRCm39)	A438T	unknown	Het
Gm14305	A	G	2: 176,413,298 (GRCm39)	T397A	probably benign	Het
Iffo2	A	G	4: 139,302,265 (GRCm39)	N3D	possibly damaging	Het
Insr	C	T	8: 3,308,660 (GRCm39)	M125I	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kcnj16	T	A	11: 110,915,341 (GRCm39)	M1K	probably null	Het
Kcns3	G	A	12: 11,169,764 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,579,562 (GRCm39)	V578A	probably benign	Het
Krt79	T	C	15: 101,839,137 (GRCm39)	K444R	probably damaging	Het
Mtg2	T	C	2: 179,727,368 (GRCm39)	V340A	probably benign	Het
Mtr	A	C	13: 12,236,372 (GRCm39)	L618R	probably damaging	Het
Myo6	T	A	9: 80,124,991 (GRCm39)	D23E	unknown	Het
Nos1ap	A	G	1: 170,218,328 (GRCm39)	V27A	probably damaging	Het
Npc1	A	T	18: 12,328,129 (GRCm39)	I1060K	possibly damaging	Het
Nrbp1	T	A	5: 31,401,193 (GRCm39)	L23*	probably null	Het
Or10ag52	T	C	2: 87,044,148 (GRCm39)	I304T	probably damaging	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or6c6c	A	T	10: 129,540,753 (GRCm39)	K2I	possibly damaging	Het
Or8b3	C	A	9: 38,314,803 (GRCm39)	T211K	probably damaging	Het
Or9s13	G	A	1: 92,548,078 (GRCm39)	R150H	probably benign	Het
Pcdhgc5	A	T	18: 37,954,615 (GRCm39)	T630S	probably damaging	Het
Pgm2	C	A	5: 64,269,503 (GRCm39)	T530K	probably damaging	Het
Phf20l1	A	T	15: 66,475,922 (GRCm39)	N185I	probably damaging	Het
Pkp2	A	G	16: 16,031,313 (GRCm39)	D26G	probably damaging	Het
Rangap1	C	T	15: 81,594,696 (GRCm39)	E378K	probably benign	Het
Rapgef1	A	C	2: 29,569,210 (GRCm39)	I43L	probably benign	Het
Rbfox1	A	G	16: 7,094,892 (GRCm39)	T111A		Het
Rptn	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	3: 93,304,000 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,811 (GRCm39)	M287L	probably benign	Het
Speer4a2	T	C	5: 26,289,690 (GRCm39)	S246G	possibly damaging	Het
Stau2	A	G	1: 16,416,049 (GRCm39)	M470T	probably benign	Het
Tcf12	T	C	9: 71,922,933 (GRCm39)	Y70C	probably damaging	Het
Tsc22d1	C	T	14: 76,654,460 (GRCm39)	T313M	probably benign	Het
Vmn1r52	T	A	6: 90,156,239 (GRCm39)	M181K	possibly damaging	Het
Zbtb48	A	T	4: 152,106,567 (GRCm39)	C345S	probably damaging	Het
Zfp628	G	A	7: 4,921,958 (GRCm39)	R60Q	probably damaging	Het
Zfp638	T	C	6: 83,906,713 (GRCm39)	S293P	possibly damaging	Het
Zkscan17	G	A	11: 59,393,770 (GRCm39)	P183S	probably benign	Het
Zscan12	G	T	13: 21,547,897 (GRCm39)	K26N	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
R7991:Hnrnpu	UTSW	1	178,159,871 (GRCm39)	missense	unknown
R8037:Hnrnpu	UTSW	1	178,159,917 (GRCm39)	missense	unknown
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'- CCATCTGGTCGCCGTCCA -3'
(R):5'- GGTGAAAGGAATTGGCGCC -3'

Sequencing Primer
(F):5'- CGTCCAGAGCGGCGATG -3'
(R):5'- AAGGAATTGGCGCCGTTCG -3'

Posted On

2020-07-13