Mutagenetix > Incidental Mutation

Incidental Mutation 'R6059:Hnrnph3'

483132

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph3

Ensembl Gene

ENSMUSG00000020069

Gene Name

heterogeneous nuclear ribonucleoprotein H3

Synonyms

Hnrph3, hnRNP 2H9

MMRRC Submission

044225-MU

Accession Numbers

Essential gene?

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

Stock #

R6059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62850443-62859764 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 62854641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119567] [ENSMUST00000119814] [ENSMUST00000140743] [ENSMUST00000143594]

AlphaFold

D3Z3N4

Predicted Effect

unknown
Transcript: ENSMUST00000020263
AA Change: M50K

SMART Domains

Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069
AA Change: M50K

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

unknown
Transcript: ENSMUST00000118898
AA Change: M50K

SMART Domains

Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069
AA Change: M50K

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 benign
Transcript: ENSMUST00000119567

SMART Domains

Protein: ENSMUSP00000113429
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	515	N/A	INTRINSIC
FYVE	532	599	6.99e-24	SMART

Predicted Effect

probably benign
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: 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

Meta Mutation Damage Score

0.1514

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (54/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	C	A	17: 48,400,847 (GRCm39)	T44K	probably benign	Het
Ablim2	A	G	5: 36,014,508 (GRCm39)	D189G	probably benign	Het
Abo	A	G	2: 26,733,365 (GRCm39)	V278A	possibly damaging	Het
Anxa1	A	G	19: 20,355,064 (GRCm39)	F237L	possibly damaging	Het
Atp11b	A	G	3: 35,868,326 (GRCm39)	Y466C	possibly damaging	Het
Cfh	T	A	1: 140,046,428 (GRCm39)	K531N	possibly damaging	Het
Cgref1	G	T	5: 31,102,728 (GRCm39)	P31Q	probably damaging	Het
Clca3a2	G	A	3: 144,516,531 (GRCm39)	A355V	probably damaging	Het
Cntnap5c	T	A	17: 58,620,707 (GRCm39)	C929S	probably damaging	Het
Col6a6	A	T	9: 105,661,116 (GRCm39)	V331D	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,301 (GRCm39)	V469E	possibly damaging	Het
Dchs2	A	G	3: 83,263,043 (GRCm39)	S3104G	probably benign	Het
Ddx24	G	T	12: 103,374,559 (GRCm39)	A875E	probably damaging	Het
Dsc1	A	T	18: 20,243,299 (GRCm39)	N51K	probably damaging	Het
Efcab3	T	C	11: 104,927,595 (GRCm39)	I4788T	probably benign	Het
Epb41l3	C	T	17: 69,593,793 (GRCm39)	T537I	probably damaging	Het
Epb41l3	A	G	17: 69,591,637 (GRCm39)	E708G	probably damaging	Het
Fam162b	A	T	10: 51,466,403 (GRCm39)	C39S	probably benign	Het
Garre1	G	A	7: 33,944,888 (GRCm39)	A452V	possibly damaging	Het
Gbf1	T	C	19: 46,253,687 (GRCm39)	I531T	probably damaging	Het
Glipr1l2	T	C	10: 111,919,423 (GRCm39)	V48A	probably benign	Het
Gorasp1	A	G	9: 119,759,072 (GRCm39)	V177A	probably damaging	Het
Gys1	A	G	7: 45,104,712 (GRCm39)		probably null	Het
Hif1a	T	A	12: 73,988,574 (GRCm39)	V523E	probably damaging	Het
Lcn9	C	A	2: 25,714,737 (GRCm39)	L159I	possibly damaging	Het
Luzp1	C	T	4: 136,268,791 (GRCm39)	A338V	probably benign	Het
Map3k10	A	T	7: 27,356,247 (GRCm39)	S891T	probably damaging	Het
Mmrn2	C	T	14: 34,119,548 (GRCm39)	Q97*	probably null	Het
Mov10	G	A	3: 104,725,266 (GRCm39)		probably benign	Het
Ncam1	A	C	9: 49,455,966 (GRCm39)	Y551D	probably damaging	Het
Ncf1	A	T	5: 134,252,341 (GRCm39)	Y237N	probably damaging	Het
Nipbl	A	T	15: 8,325,052 (GRCm39)	I2537N	probably damaging	Het
Nlrp1b	A	T	11: 71,107,836 (GRCm39)	V555E	possibly damaging	Het
Nod2	T	C	8: 89,391,042 (GRCm39)	Y428H	probably damaging	Het
Nup133	C	A	8: 124,641,335 (GRCm39)	A862S	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,078 (GRCm39)	L23*	probably null	Het
Pclo	A	G	5: 14,861,714 (GRCm39)	E4889G	unknown	Het
Plcd3	T	A	11: 102,971,227 (GRCm39)	I110F	possibly damaging	Het
Plxna2	C	A	1: 194,493,279 (GRCm39)	N1851K	possibly damaging	Het
Ppp2r5c	C	A	12: 110,541,222 (GRCm39)	A457E	probably benign	Het
Ppp5c	C	T	7: 16,761,832 (GRCm39)		probably benign	Het
Pramel25	T	G	4: 143,520,550 (GRCm39)	S101A	possibly damaging	Het
Prg4	T	A	1: 150,325,748 (GRCm39)	Y1009F	possibly damaging	Het
Rcor3	A	T	1: 191,804,240 (GRCm39)	M303K	probably benign	Het
Rrn3	G	A	16: 13,624,468 (GRCm39)	M433I	probably benign	Het
Serpinb9e	G	A	13: 33,441,757 (GRCm39)	V230M	probably benign	Het
Shisa6	T	A	11: 66,115,800 (GRCm39)	H279L	probably damaging	Het
Slc38a11	A	T	2: 65,165,089 (GRCm39)	I234N	probably damaging	Het
Socs1	G	C	16: 10,602,394 (GRCm39)	F114L	probably damaging	Het
Ssc5d	C	T	7: 4,945,743 (GRCm39)	T925M	possibly damaging	Het
Stc1	T	C	14: 69,269,887 (GRCm39)	S156P	probably damaging	Het
Ttc5	C	G	14: 51,015,303 (GRCm39)	V103L	probably damaging	Het
Vmn1r73	A	G	7: 11,490,538 (GRCm39)	T119A	probably benign	Het
Vmn2r99	G	A	17: 19,599,242 (GRCm39)	D309N	probably benign	Het
Vps53	T	C	11: 75,957,693 (GRCm39)	H353R	possibly damaging	Het
Ythdf3	T	A	3: 16,257,356 (GRCm39)	Y47*	probably null	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	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
R5873:Hnrnph3	UTSW	10	62,855,170 (GRCm39)	critical splice donor site	probably null
R5952:Hnrnph3	UTSW	10	62,851,374 (GRCm39)	intron	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'- ATGCTTACCCACCCCATTTAAG -3'
(R):5'- TGAGTTACCATTGGGAGCACAG -3'

Sequencing Primer
(F):5'- CACCCCATTTAAGCAACAGTG -3'
(R):5'- GTTACCATTGGGAGCACAGTTAATG -3'

Posted On

2017-07-14