Mutagenetix > Incidental Mutation

Incidental Mutation 'R8871:Hnrnpf'

676280

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpf

Ensembl Gene

ENSMUSG00000042079

Gene Name

heterogeneous nuclear ribonucleoprotein F

Synonyms

Hnrpf, 4833420I20Rik

MMRRC Submission

068685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117877301-117902583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117900811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 32 (S32A)

Ref Sequence

ENSEMBL: ENSMUSP00000045048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035493] [ENSMUST00000163168] [ENSMUST00000167182] [ENSMUST00000177570] [ENSMUST00000177743] [ENSMUST00000177918] [ENSMUST00000179224] [ENSMUST00000179478] [ENSMUST00000180020] [ENSMUST00000180341]

AlphaFold

Q9Z2X1

PDB Structure

Solution structure of the RNA binding domain in heterogeneous nuclear ribonucleoprotein F homolog [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000035493
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000045048
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART
low complexity region	233	254	N/A	INTRINSIC
RRM	290	360	1.03e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163168
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000130023
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART
low complexity region	233	254	N/A	INTRINSIC
RRM	290	360	1.03e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167182
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000126817
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART
low complexity region	233	254	N/A	INTRINSIC
RRM	290	360	1.03e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177570
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000136162
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177743

Predicted Effect

probably benign
Transcript: ENSMUST00000177918
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000137091
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
Pfam:RRM_6	13	70	7.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179224

Predicted Effect

probably benign
Transcript: ENSMUST00000179478
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000136436
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180020
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000137632
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART
low complexity region	233	254	N/A	INTRINSIC
RRM	290	360	1.03e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180341
AA Change: S32A

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

SMART Domains

Protein: ENSMUSP00000136700
Gene: ENSMUSG00000042079
AA Change: S32A

Domain	Start	End	E-Value	Type
RRM	12	86	1.11e-7	SMART
RRM	112	184	2.38e-7	SMART
low complexity region	233	254	N/A	INTRINSIC
RRM	290	360	1.03e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

99% (76/77)

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 that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, 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 three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,248,071 (GRCm39)	M2606R	probably benign	Het
Abcg5	C	T	17: 84,990,295 (GRCm39)	E3K	probably benign	Het
Adam20	A	C	8: 41,248,601 (GRCm39)	H237P	probably damaging	Het
Alg3	T	C	16: 20,424,684 (GRCm39)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,931,944 (GRCm39)	Y752N	probably benign	Het
AW551984	A	T	9: 39,500,998 (GRCm39)	L759*	probably null	Het
Bdp1	A	C	13: 100,186,175 (GRCm39)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,885,777 (GRCm39)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,857,285 (GRCm39)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,164,989 (GRCm39)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,494,827 (GRCm39)	I945K	probably benign	Het
Celf1	A	G	2: 90,840,840 (GRCm39)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col14a1	T	G	15: 55,245,958 (GRCm39)	D487E	unknown	Het
Crybg3	T	C	16: 59,378,519 (GRCm39)	N912D	probably benign	Het
Cstl1	A	G	2: 148,596,554 (GRCm39)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,595,096 (GRCm39)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 130,718,597 (GRCm39)	Y1773H	unknown	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Fbln2	A	T	6: 91,233,215 (GRCm39)		probably null	Het
Fbxo16	A	G	14: 65,531,348 (GRCm39)	E84G	probably damaging	Het
Fras1	T	A	5: 96,855,257 (GRCm39)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,082,896 (GRCm39)	H85R	probably damaging	Het
Galc	A	T	12: 98,212,543 (GRCm39)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm39)		probably null	Het
Gm10220	T	A	5: 26,322,863 (GRCm39)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,760,109 (GRCm39)	T215A	probably damaging	Het
Hspa1l	T	C	17: 35,197,799 (GRCm39)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,144,424 (GRCm39)	V37D	probably benign	Het
Itga11	C	A	9: 62,668,823 (GRCm39)	Y693*	probably null	Het
Itgax	T	A	7: 127,735,223 (GRCm39)	F459L	probably damaging	Het
Jph1	A	G	1: 17,067,719 (GRCm39)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,083,500 (GRCm39)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,410,044 (GRCm39)	Y176*	probably null	Het
Kif13a	T	C	13: 46,984,279 (GRCm39)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,326,871 (GRCm39)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,783,435 (GRCm39)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,347,375 (GRCm39)	M3107V	unknown	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,552 (GRCm39)		probably benign	Het
Muc16	C	A	9: 18,567,344 (GRCm39)	G1725V	unknown	Het
Myo5c	T	C	9: 75,185,585 (GRCm39)	S983P	probably benign	Het
Naip1	G	A	13: 100,580,146 (GRCm39)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,781,968 (GRCm39)		probably benign	Het
Nrl	A	T	14: 55,758,184 (GRCm39)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,067,545 (GRCm39)	*261R	probably null	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,349,536 (GRCm39)	I45V		Het
Or8j3c	T	C	2: 86,253,697 (GRCm39)	M108V	probably benign	Het
Oscp1	T	A	4: 125,952,535 (GRCm39)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,064,763 (GRCm39)	V34I	probably benign	Het
Pdzph1	A	G	17: 59,195,033 (GRCm39)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,900,503 (GRCm39)	S463C		Het
Pnpla3	G	A	15: 84,063,509 (GRCm39)	E296K	probably benign	Het
Prss35	T	G	9: 86,637,244 (GRCm39)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,164,096 (GRCm39)	E336G	possibly damaging	Het
Rgl2	G	A	17: 34,153,974 (GRCm39)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,557,156 (GRCm39)	N468K	probably benign	Het
Rptor	T	A	11: 119,494,751 (GRCm39)	I39N	probably benign	Het
S1pr1	A	G	3: 115,505,628 (GRCm39)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 31,800,544 (GRCm39)	Y44*	probably null	Het
Setx	A	G	2: 29,038,114 (GRCm39)	D1533G	probably benign	Het
Sf3b1	A	G	1: 55,029,508 (GRCm39)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 38,420,103 (GRCm39)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,305,817 (GRCm39)	P227Q		Het
She	T	C	3: 89,759,795 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,642,015 (GRCm39)	I328T	probably damaging	Het
Sort1	G	A	3: 108,262,887 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,091,595 (GRCm39)	S977P	probably benign	Het
Srsf9	T	C	5: 115,468,712 (GRCm39)	V116A	probably damaging	Het
Tex15	G	A	8: 34,066,992 (GRCm39)	V2141I	possibly damaging	Het
Tmprss13	A	T	9: 45,249,704 (GRCm39)	H347L	probably damaging	Het
Trpv4	A	G	5: 114,768,511 (GRCm39)	F519S	probably benign	Het
Trrap	A	G	5: 144,758,649 (GRCm39)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,693,442 (GRCm39)	Y144*	probably null	Het
Vmn2r10	A	G	5: 109,146,899 (GRCm39)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,641,186 (GRCm39)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,343,919 (GRCm39)	Y449*	probably null	Het
Zfhx3	A	G	8: 109,676,867 (GRCm39)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 149,959,995 (GRCm39)	V131A	probably benign	Het
Zfp574	G	T	7: 24,780,562 (GRCm39)	C528F	probably damaging	Het
Zfp947	A	T	17: 22,364,695 (GRCm39)	N326K	probably benign	Het

Other mutations in Hnrnpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Hnrnpf	APN	6	117,884,094 (GRCm39)	intron	probably benign
R2392:Hnrnpf	UTSW	6	117,901,829 (GRCm39)	missense	possibly damaging	0.67
R4786:Hnrnpf	UTSW	6	117,900,857 (GRCm39)	missense	probably damaging	1.00
R8889:Hnrnpf	UTSW	6	117,901,753 (GRCm39)	missense	probably benign
Z1176:Hnrnpf	UTSW	6	117,900,745 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TTACTGACCGTGAAATGGGG -3'
(R):5'- TCTGTGTGACTTGAACACCTC -3'

Sequencing Primer
(F):5'- TTACTGACCGTGAAATGGGGAGAAG -3'
(R):5'- CAATATACCGGTGTCCCATGC -3'

Posted On

2021-07-15