Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Hnrnph1'

502800

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph1

Ensembl Gene

ENSMUSG00000007850

Gene Name

heterogeneous nuclear ribonucleoprotein H1

Synonyms

Hnrph1, E430005G16Rik

MMRRC Submission

044334-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50267817-50277355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50274104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 340 (D340E)

Ref Sequence

ENSEMBL: ENSMUSP00000076989 (fasta)

Gene Model

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

AlphaFold

O35737

Predicted Effect

probably benign
Transcript: ENSMUST00000069304
AA Change: D340E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850
AA Change: D340E

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

possibly damaging
Transcript: ENSMUST00000077817
AA Change: D340E

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: D340E

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: D340E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850
AA Change: D340E

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: ENSMUST00000134230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133435

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	probably 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
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
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'- ACACTGTGTACACATGCGGG -3'
(R):5'- AGAGCTCTACATATCTGTGTTCTG -3'

Sequencing Primer
(F):5'- TGTACACATGCGGGGATTACCATAC -3'
(R):5'- GCTCTACATATCTGTGTTCTGAAATG -3'

Posted On

2018-02-27