Mutagenetix > Incidental Mutation

Incidental Mutation 'R3150:Hnrnph1'

271638

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph1

Ensembl Gene

ENSMUSG00000007850

Gene Name

heterogeneous nuclear ribonucleoprotein H1

Synonyms

Hnrph1, E430005G16Rik

MMRRC Submission

040602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3150 (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 50276619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 439 (V439E)

Ref Sequence

ENSEMBL: ENSMUSP00000076989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020643] [ENSMUST00000069304] [ENSMUST00000077817] [ENSMUST00000109142]

AlphaFold

O35737

Predicted Effect

probably benign
Transcript: ENSMUST00000020643

SMART Domains

Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
low complexity region	83	111	N/A	INTRINSIC
RUN	211	273	1.21e-21	SMART
coiled coil region	324	384	N/A	INTRINSIC
coiled coil region	409	621	N/A	INTRINSIC
FYVE	638	705	1.24e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069304

SMART Domains

Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850

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: V439E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: V439E

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

SMART Domains

Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850

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: ENSMUST00000140056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141668

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,313,590 (GRCm39)	S178T	possibly damaging	Het
Cabin1	A	G	10: 75,492,745 (GRCm39)	L1850P	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Ces1g	C	T	8: 94,052,444 (GRCm39)	V282I	probably benign	Het
Col4a3	T	G	1: 82,634,858 (GRCm39)		probably null	Het
Crat	C	T	2: 30,303,871 (GRCm39)		probably null	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cspg4b	A	T	13: 113,488,294 (GRCm39)	Q105H	probably damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Ddb1	T	A	19: 10,590,346 (GRCm39)	M291K	probably benign	Het
Fcgbpl1	C	A	7: 27,853,620 (GRCm39)	T1528N	probably benign	Het
Gfod2	C	T	8: 106,443,853 (GRCm39)	G230D	probably benign	Het
Git2	A	G	5: 114,868,410 (GRCm39)	S257P	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Map3k20	C	T	2: 72,202,336 (GRCm39)	T189M	probably damaging	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nmral1	G	A	16: 4,534,333 (GRCm39)	T36I	probably damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or5b119	A	G	19: 13,456,824 (GRCm39)	V246A	probably damaging	Het
Or7e169	A	G	9: 19,757,510 (GRCm39)	I135T	possibly damaging	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pkd1	G	T	17: 24,798,765 (GRCm39)	R2691L	probably benign	Het
Ppp2r2a	G	A	14: 67,261,214 (GRCm39)	R169W	probably damaging	Het
Prdm1	A	T	10: 44,334,488 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,767,157 (GRCm39)	P443L	possibly damaging	Het
Rtn4	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	11: 29,643,308 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,045,774 (GRCm39)	H865R	probably damaging	Het
Spats1	A	T	17: 45,775,480 (GRCm39)	S15T	probably damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
Tie1	G	A	4: 118,333,022 (GRCm39)	A902V	probably damaging	Het
Usp22	T	C	11: 61,051,407 (GRCm39)	Q312R	probably damaging	Het
Vmn2r32	T	C	7: 7,475,554 (GRCm39)	Y443C	probably benign	Het
Vps13d	A	C	4: 144,813,360 (GRCm39)	D3274E	probably damaging	Het
Wdr62	A	T	7: 29,971,095 (GRCm39)	N167K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim7	A	T	11: 62,164,611 (GRCm39)	I43N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	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
R2172:Hnrnph1	UTSW	11	50,273,643 (GRCm39)	missense	probably benign	0.11
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'- CTGGCAAGTTGGTACTGCAG -3'
(R):5'- AGGCTGGATGGATTGCAAAATC -3'

Sequencing Primer
(F):5'- TACTGCAGAGAAAAGGGTTTAATTG -3'
(R):5'- TTGCAAAATCTGTTAAACTGAGGGG -3'

Posted On

2015-03-25