Mutagenetix > Incidental Mutation

Incidental Mutation 'R2172:Hnrnph1'

237574

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph1

Ensembl Gene

ENSMUSG00000007850

Gene Name

heterogeneous nuclear ribonucleoprotein H1

Synonyms

Hnrph1, E430005G16Rik

MMRRC Submission

040174-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50267817-50277355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50273643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 244 (D244E)

Ref Sequence

ENSEMBL: ENSMUSP00000104770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069304] [ENSMUST00000077817] [ENSMUST00000109142]

AlphaFold

O35737

Predicted Effect

probably benign
Transcript: ENSMUST00000069304
AA Change: D244E

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850
AA Change: D244E

Domain	Start	End	E-Value	Type
RRM	12	86	3.77e-10	SMART
RRM	112	184	2.59e-8	SMART
low complexity region	236	254	N/A	INTRINSIC
RRM	290	360	1.45e-11	SMART
low complexity region	383	401	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077817
AA Change: D244E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: D244E

Domain	Start	End	E-Value	Type
RRM	12	86	3.77e-10	SMART
RRM	112	184	2.59e-8	SMART
low complexity region	236	254	N/A	INTRINSIC
RRM	290	360	1.45e-11	SMART
low complexity region	383	401	N/A	INTRINSIC
low complexity region	413	437	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109142
AA Change: D244E

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850
AA Change: D244E

Domain	Start	End	E-Value	Type
RRM	12	86	3.77e-10	SMART
RRM	112	184	2.59e-8	SMART
low complexity region	236	254	N/A	INTRINSIC
RRM	290	360	1.45e-11	SMART
low complexity region	383	401	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150657

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. 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 may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,123,613 (GRCm39)	E441V	probably damaging	Het
Arfip2	T	A	7: 105,287,195 (GRCm39)	D64V	probably damaging	Het
Atg9a	C	A	1: 75,162,329 (GRCm39)	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,497,864 (GRCm39)	I308L	probably benign	Het
Bcan	T	A	3: 87,903,888 (GRCm39)	Y199F	probably damaging	Het
Bsn	T	C	9: 107,987,191 (GRCm39)		probably benign	Het
Ccdc158	A	T	5: 92,780,367 (GRCm39)	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,163,672 (GRCm39)	Y492C	probably benign	Het
Dnah9	G	T	11: 65,963,605 (GRCm39)	H1783N	probably damaging	Het
Dpep2	A	G	8: 106,715,630 (GRCm39)	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,178,559 (GRCm39)	Y282H	probably damaging	Het
Egfr	C	T	11: 16,861,562 (GRCm39)	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,530,477 (GRCm39)	S560P	probably damaging	Het
Gm14295	G	A	2: 176,502,895 (GRCm39)	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,212,471 (GRCm39)	V51I	probably benign	Het
Gsap	G	A	5: 21,427,438 (GRCm39)		probably null	Het
Hecw1	T	A	13: 14,552,291 (GRCm39)	I103F	probably damaging	Het
Herc3	T	A	6: 58,864,422 (GRCm39)	N685K	probably damaging	Het
Hydin	A	G	8: 111,308,681 (GRCm39)	E3989G	probably benign	Het
Ibsp	T	C	5: 104,458,296 (GRCm39)	Y278H	probably damaging	Het
Ift57	T	G	16: 49,579,703 (GRCm39)	N291K	probably benign	Het
Il15ra	A	G	2: 11,728,382 (GRCm39)	T149A	possibly damaging	Het
Ints5	C	T	19: 8,873,646 (GRCm39)	T535I	possibly damaging	Het
Jarid2	T	C	13: 45,056,015 (GRCm39)	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Lrrc49	A	G	9: 60,509,965 (GRCm39)	V429A	probably benign	Het
Lsm3	T	C	6: 91,499,254 (GRCm39)	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map1a	G	T	2: 121,138,413 (GRCm39)	V2726L	probably damaging	Het
Marveld3	A	C	8: 110,688,478 (GRCm39)	S88A	probably benign	Het
Mcm9	T	C	10: 53,424,670 (GRCm39)	D640G	probably damaging	Het
Mettl4	A	G	17: 95,040,591 (GRCm39)	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,379 (GRCm39)	L274*	probably null	Het
Nacc2	A	C	2: 25,950,235 (GRCm39)	D500E	probably benign	Het
Nprl3	T	A	11: 32,184,894 (GRCm39)	M372L	probably benign	Het
Or5p6	A	T	7: 107,630,674 (GRCm39)	I292N	probably damaging	Het
Otud7b	T	G	3: 96,060,837 (GRCm39)		probably null	Het
Pcx	G	A	19: 4,670,909 (GRCm39)	R1070H	probably benign	Het
Ptprq	C	T	10: 107,426,855 (GRCm39)	W1560*	probably null	Het
Puf60	A	T	15: 75,942,313 (GRCm39)	I520N	probably damaging	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Rfx3	G	A	19: 27,792,894 (GRCm39)	Q322*	probably null	Het
Samd14	G	T	11: 94,905,217 (GRCm39)	V10L	probably benign	Het
Setd2	G	A	9: 110,378,912 (GRCm39)	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,749,316 (GRCm39)	S117P	probably benign	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skor1	C	A	9: 63,052,404 (GRCm39)	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,119,638 (GRCm39)	T375A	probably benign	Het
Sparc	G	A	11: 55,286,627 (GRCm39)	Q324*	probably null	Het
Spopfm2	T	G	3: 94,083,605 (GRCm39)	K69Q	possibly damaging	Het
Srebf1	T	C	11: 60,097,328 (GRCm39)	T171A	probably benign	Het
Srrd	A	G	5: 112,488,988 (GRCm39)	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,133,235 (GRCm39)	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,148,274 (GRCm39)	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721 (GRCm39)	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,205,859 (GRCm39)	S516N	probably damaging	Het
Trpa1	T	A	1: 14,951,880 (GRCm39)	T940S	probably benign	Het
Trpv4	G	A	5: 114,782,771 (GRCm39)	R64C	probably damaging	Het
Tufm	A	G	7: 126,088,019 (GRCm39)	E174G	probably benign	Het
Urb2	A	G	8: 124,757,841 (GRCm39)	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843 (GRCm39)	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,477,614 (GRCm39)	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,544,694 (GRCm39)	F277L	probably damaging	Het
Zfp683	C	T	4: 133,783,106 (GRCm39)	T190I	possibly damaging	Het

Other mutations in Hnrnph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0480:Hnrnph1	UTSW	11	50,276,589 (GRCm39)	splice site	probably benign
R3150:Hnrnph1	UTSW	11	50,276,619 (GRCm39)	missense	probably benign
R4908:Hnrnph1	UTSW	11	50,269,237 (GRCm39)	missense	probably damaging	0.97
R5661:Hnrnph1	UTSW	11	50,275,507 (GRCm39)	missense	probably benign
R6194:Hnrnph1	UTSW	11	50,274,104 (GRCm39)	missense	possibly damaging	0.89
R7501:Hnrnph1	UTSW	11	50,270,383 (GRCm39)	missense	probably benign	0.00
R7650:Hnrnph1	UTSW	11	50,274,726 (GRCm39)	missense	probably benign
R7745:Hnrnph1	UTSW	11	50,270,324 (GRCm39)	missense	probably damaging	1.00
R8172:Hnrnph1	UTSW	11	50,270,732 (GRCm39)	missense	probably damaging	0.99
R9712:Hnrnph1	UTSW	11	50,276,696 (GRCm39)	missense	unknown
X0021:Hnrnph1	UTSW	11	50,270,306 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGAAAACTTATGGCCATGC -3'
(R):5'- TCTGGAAAGTAGAGCCACCG -3'

Sequencing Primer
(F):5'- AACTTATGGCCATGCAGCGG -3'
(R):5'- GTCCCCATATCTGTGGTCAG -3'

Posted On

2014-10-02