Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Hnrnph3'

455319

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph3

Ensembl Gene

ENSMUSG00000020069

Gene Name

heterogeneous nuclear ribonucleoprotein H3

Synonyms

Hnrph3, hnRNP 2H9

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62850443-62859764 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 62855170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119814] [ENSMUST00000124784] [ENSMUST00000140743] [ENSMUST00000143594]

AlphaFold

D3Z3N4

Predicted Effect

probably null
Transcript: ENSMUST00000020263

SMART Domains

Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	191	N/A	INTRINSIC
RRM	196	266	7.96e-9	SMART
low complexity region	272	286	N/A	INTRINSIC
low complexity region	294	341	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118898

SMART Domains

Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	176	N/A	INTRINSIC
RRM	181	251	7.96e-9	SMART
low complexity region	257	271	N/A	INTRINSIC
low complexity region	279	326	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119814

SMART Domains

Protein: ENSMUSP00000113134
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
PDB:1WG5\|A	10	39	3e-11	PDB
Blast:RRM	17	43	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000124784

SMART Domains

Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	69	175	1.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140743

SMART Domains

Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
PDB:1WG5\|A	10	39	3e-11	PDB
Blast:RRM	17	43	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141616

Predicted Effect

probably benign
Transcript: ENSMUST00000143594

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143689

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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 complex 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 has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Krt28	A	C	11: 99,257,716 (GRCm39)	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,755,890 (GRCm39)	T220S	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppl	A	G	16: 4,923,913 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rbak	A	G	5: 143,159,466 (GRCm39)	V529A	probably benign	Het
Rc3h1	C	T	1: 160,787,071 (GRCm39)	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	Het

Other mutations in Hnrnph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Hnrnph3	APN	10	62,853,903 (GRCm39)	makesense	probably null
IGL02112:Hnrnph3	APN	10	62,852,184 (GRCm39)	critical splice donor site	probably null
IGL02116:Hnrnph3	APN	10	62,851,855 (GRCm39)	intron	probably benign
IGL02193:Hnrnph3	APN	10	62,853,056 (GRCm39)	missense	probably damaging	0.98
IGL02211:Hnrnph3	APN	10	62,853,121 (GRCm39)	unclassified	probably benign
IGL02410:Hnrnph3	APN	10	62,851,503 (GRCm39)	intron	probably benign
IGL02616:Hnrnph3	APN	10	62,855,264 (GRCm39)	missense	possibly damaging	0.66
IGL03033:Hnrnph3	APN	10	62,853,958 (GRCm39)	missense	probably benign	0.00
IGL03367:Hnrnph3	APN	10	62,853,008 (GRCm39)	missense	probably damaging	1.00
R0450:Hnrnph3	UTSW	10	62,855,279 (GRCm39)	missense	probably damaging	0.99
R0450:Hnrnph3	UTSW	10	62,853,994 (GRCm39)	missense	probably benign	0.01
R0469:Hnrnph3	UTSW	10	62,855,279 (GRCm39)	missense	probably damaging	0.99
R0469:Hnrnph3	UTSW	10	62,853,994 (GRCm39)	missense	probably benign	0.01
R1585:Hnrnph3	UTSW	10	62,851,579 (GRCm39)	critical splice donor site	probably null
R4285:Hnrnph3	UTSW	10	62,852,247 (GRCm39)	missense	probably damaging	1.00
R4706:Hnrnph3	UTSW	10	62,853,059 (GRCm39)	missense	probably damaging	1.00
R5606:Hnrnph3	UTSW	10	62,855,222 (GRCm39)	missense	possibly damaging	0.94
R5952:Hnrnph3	UTSW	10	62,851,374 (GRCm39)	intron	probably benign
R6059:Hnrnph3	UTSW	10	62,854,641 (GRCm39)	unclassified	probably benign
R6644:Hnrnph3	UTSW	10	62,854,672 (GRCm39)	unclassified	probably benign
R7517:Hnrnph3	UTSW	10	62,854,674 (GRCm39)	missense	unknown
R9374:Hnrnph3	UTSW	10	62,853,957 (GRCm39)	missense	probably benign	0.01
R9436:Hnrnph3	UTSW	10	62,854,627 (GRCm39)	nonsense	probably null
R9437:Hnrnph3	UTSW	10	62,854,627 (GRCm39)	nonsense	probably null
R9781:Hnrnph3	UTSW	10	62,853,861 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAATGTTCACAGAGCCTACAC -3'
(R):5'- GCATGCATTTTGAGCTGTGAC -3'

Sequencing Primer
(F):5'- ATGTTCACAGAGCCTACACATTCTC -3'
(R):5'- CATGCATTTTGAGCTGTGACACTTG -3'

Posted On

2017-02-10