Mutagenetix > Incidental Mutation

Incidental Mutation 'R5661:Hnrnph1'

444095

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph1

Ensembl Gene

ENSMUSG00000007850

Gene Name

heterogeneous nuclear ribonucleoprotein H1

Synonyms

Hnrph1, E430005G16Rik

MMRRC Submission

043304-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5661 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50267817-50277355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50275507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 415 (Q415L)

Ref Sequence

ENSEMBL: ENSMUSP00000104770 (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
AA Change: Q415L

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

SMART Domains

Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850
AA Change: Q415L

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: Q415L

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

SMART Domains

Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: Q415L

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: Q415L

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

SMART Domains

Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850
AA Change: Q415L

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: ENSMUST00000143301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135508

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: ENSMUST00000132715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129631

Meta Mutation Damage Score

0.1351

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	G	6: 83,497,754 (GRCm39)	I166T	probably damaging	Het
Actn1	T	C	12: 80,231,618 (GRCm39)	E273G	probably benign	Het
Arhgap15	G	A	2: 44,212,739 (GRCm39)	R403H	possibly damaging	Het
Arhgef26	T	C	3: 62,285,075 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,702,087 (GRCm39)	R81*	probably null	Het
Brd3	G	A	2: 27,351,584 (GRCm39)	T223I	possibly damaging	Het
Cacna2d4	T	C	6: 119,320,492 (GRCm39)	M890T	probably benign	Het
Carm1	A	G	9: 21,498,295 (GRCm39)	D433G	probably benign	Het
Ccdc40	A	G	11: 119,128,753 (GRCm39)	K427E	probably benign	Het
Ccdc80	T	C	16: 44,947,808 (GRCm39)	Y929H	probably damaging	Het
Ccr9	A	C	9: 123,609,164 (GRCm39)	Y282S	probably benign	Het
Det1	C	T	7: 78,492,958 (GRCm39)	E349K	probably damaging	Het
Enpep	T	A	3: 129,070,406 (GRCm39)	N834Y	probably damaging	Het
Epha7	A	T	4: 28,946,217 (GRCm39)		probably null	Het
Fap	A	T	2: 62,367,307 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,053 (GRCm39)	C23R	probably benign	Het
Gad1-ps	T	C	10: 99,280,901 (GRCm39)		noncoding transcript	Het
Gli2	C	A	1: 118,781,032 (GRCm39)	E238*	probably null	Het
Gm20939	C	A	17: 95,183,207 (GRCm39)	H148N	probably damaging	Het
Gnl1	T	C	17: 36,293,447 (GRCm39)	Y211H	probably benign	Het
Gpat3	A	T	5: 101,033,808 (GRCm39)	K221*	probably null	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kansl3	T	C	1: 36,388,038 (GRCm39)	E383G	possibly damaging	Het
Kdm5b	T	C	1: 134,526,811 (GRCm39)	V311A	probably benign	Het
Lipk	T	A	19: 34,009,727 (GRCm39)	M215K	probably benign	Het
Madd	A	G	2: 90,984,778 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,700,744 (GRCm39)	E88G	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,626 (GRCm39)	S713T	probably benign	Het
Mocos	T	A	18: 24,799,052 (GRCm39)		probably null	Het
Msto1	T	A	3: 88,820,192 (GRCm39)	D88V	possibly damaging	Het
Myo5a	A	G	9: 75,074,488 (GRCm39)	Y799C	probably benign	Het
Nectin4	T	A	1: 171,212,738 (GRCm39)	L357H	probably damaging	Het
Or4p22	G	A	2: 88,317,441 (GRCm39)	V122M	probably damaging	Het
Or6c2	A	T	10: 129,362,618 (GRCm39)	H174L	probably benign	Het
Pax2	A	G	19: 44,779,161 (GRCm39)	N179S	probably damaging	Het
Pcdhac2	C	A	18: 37,278,499 (GRCm39)	T493K	probably damaging	Het
Pgk2	G	T	17: 40,518,287 (GRCm39)	C380*	probably null	Het
Pi4k2b	G	A	5: 52,900,906 (GRCm39)		probably null	Het
Plcb3	A	G	19: 6,940,588 (GRCm39)	V416A	probably damaging	Het
Pom121l2	G	A	13: 22,168,425 (GRCm39)	G899R	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,963 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,628,634 (GRCm39)	E3460K	possibly damaging	Het
Psmb3	A	G	11: 97,597,659 (GRCm39)	E75G	possibly damaging	Het
Retnlb	C	T	16: 48,638,429 (GRCm39)	T50I	probably benign	Het
Sec16a	A	G	2: 26,329,649 (GRCm39)	S789P	probably benign	Het
Sec24d	C	T	3: 123,136,734 (GRCm39)	T489I	probably damaging	Het
Sec24d	T	C	3: 123,136,791 (GRCm39)	M508T	possibly damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Terf1	T	A	1: 15,889,888 (GRCm39)	V221E	probably damaging	Het
Trak1	A	G	9: 121,272,703 (GRCm39)	N187S	possibly damaging	Het
Trappc11	T	A	8: 47,965,642 (GRCm39)	D528V	probably damaging	Het
Tut4	A	G	4: 108,370,384 (GRCm39)	D761G	probably benign	Het
Vmn1r170	A	G	7: 23,306,231 (GRCm39)	N211S	possibly damaging	Het
Zfpm2	G	A	15: 40,959,467 (GRCm39)	W50*	probably null	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
R3150:Hnrnph1	UTSW	11	50,276,619 (GRCm39)	missense	probably benign
R4908:Hnrnph1	UTSW	11	50,269,237 (GRCm39)	missense	probably damaging	0.97
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'- GACAATTGGAGTCTTGTAGATAGTAGG -3'
(R):5'- AATAGAACATATGCTTCTCCTCCC -3'

Sequencing Primer
(F):5'- AGTCTTGTAGATAGTAGGCAGAAG -3'
(R):5'- AGAACATATGCTTCTCCTCCCCAATG -3'

Posted On

2016-11-09