Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00931:Hnrnpm'

278085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpm

Ensembl Gene

ENSMUSG00000059208

Gene Name

heterogeneous nuclear ribonucleoprotein M

Synonyms

2610023M21Rik, Hnrpm

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00931

Quality Score

Status

Chromosome

Chromosomal Location

33865207-33904432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33868876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 517 (R517L)

Ref Sequence

ENSEMBL: ENSMUSP00000115787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052079] [ENSMUST00000087582] [ENSMUST00000114385] [ENSMUST00000116619] [ENSMUST00000139302] [ENSMUST00000148178]

AlphaFold

Q9D0E1

Predicted Effect

probably benign
Transcript: ENSMUST00000052079

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739

Domain	Start	End	E-Value	Type
internal_repeat_1	15	151	3.3e-6	PROSPERO
internal_repeat_1	237	378	3.3e-6	PROSPERO
low complexity region	393	404	N/A	INTRINSIC
low complexity region	445	453	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	480	486	N/A	INTRINSIC
SH3	581	655	1.09e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087582
AA Change: R517L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: R517L

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	2.7e-20	PFAM
RRM	71	144	2.35e-20	SMART
RRM	165	237	1.66e-20	SMART
low complexity region	257	274	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	350	356	N/A	INTRINSIC
Blast:AAA	430	589	2e-50	BLAST
low complexity region	590	603	N/A	INTRINSIC
RRM	614	685	1.51e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114385
AA Change: R556L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
AA Change: R556L

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	1.5e-20	PFAM
RRM	71	144	2.35e-20	SMART
low complexity region	164	175	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
RRM	204	276	1.66e-20	SMART
low complexity region	296	313	N/A	INTRINSIC
internal_repeat_2	332	432	3.9e-5	PROSPERO
internal_repeat_2	479	581	3.9e-5	PROSPERO
low complexity region	591	602	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
internal_repeat_1	643	676	1.39e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000116619

Predicted Effect

probably benign
Transcript: ENSMUST00000130946

SMART Domains

Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139302
AA Change: R517L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
AA Change: R517L

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	1.4e-20	PFAM
RRM	71	144	2.35e-20	SMART
RRM	165	237	1.66e-20	SMART
low complexity region	257	274	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	350	356	N/A	INTRINSIC
Blast:AAA	430	589	8e-51	BLAST
low complexity region	590	603	N/A	INTRINSIC
internal_repeat_1	611	635	5.49e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000148178
AA Change: R556L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: R556L

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	2.2e-22	PFAM
RRM	71	144	2.35e-20	SMART
low complexity region	164	175	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
RRM	204	276	1.66e-20	SMART
low complexity region	296	313	N/A	INTRINSIC
internal_repeat_2	332	432	6.64e-5	PROSPERO
internal_repeat_2	479	581	6.64e-5	PROSPERO
low complexity region	591	602	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
RRM	653	724	1.51e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163245

Predicted Effect

probably benign
Transcript: ENSMUST00000148258

SMART Domains

Protein: ENSMUSP00000123580
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
RRM	21	93	1.66e-20	SMART
low complexity region	113	130	N/A	INTRINSIC
low complexity region	146	167	N/A	INTRINSIC
low complexity region	196	202	N/A	INTRINSIC
internal_repeat_1	206	227	9.85e-5	PROSPERO
internal_repeat_1	221	238	9.85e-5	PROSPERO

Coding Region Coverage

Validation Efficiency

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 and they complex with heterogeneous nuclear RNA (hnRNA). 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 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. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	G	A	9: 71,123,251 (GRCm39)		probably benign	Het
Col24a1	A	G	3: 145,167,225 (GRCm39)	M1101V	probably benign	Het
Cyp4a12a	G	A	4: 115,159,153 (GRCm39)	R141Q	possibly damaging	Het
Ddx60	C	T	8: 62,422,617 (GRCm39)	S618L	probably benign	Het
Dnmt3b	T	A	2: 153,528,170 (GRCm39)		probably benign	Het
Dzip3	A	T	16: 48,755,860 (GRCm39)		probably null	Het
Fads2	A	T	19: 10,043,649 (GRCm39)	D348E	probably benign	Het
Gpcpd1	G	T	2: 132,380,038 (GRCm39)	F434L	probably benign	Het
Hoxa7	T	C	6: 52,194,286 (GRCm39)	N34D	possibly damaging	Het
Ifitm1	A	T	7: 140,548,169 (GRCm39)	M1L	probably damaging	Het
Lama2	G	A	10: 26,882,772 (GRCm39)	S605L	possibly damaging	Het
Myh7b	A	G	2: 155,472,212 (GRCm39)	D1261G	probably damaging	Het
Ndufs3	A	G	2: 90,732,846 (GRCm39)		probably null	Het
Nedd4l	T	C	18: 65,305,470 (GRCm39)	I297T	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,342 (GRCm39)	V586A	probably damaging	Het
Slc1a2	T	A	2: 102,586,457 (GRCm39)	W354R	probably damaging	Het
Slc35c1	T	C	2: 92,289,239 (GRCm39)	D89G	probably benign	Het
Tcaf3	T	C	6: 42,574,162 (GRCm39)	T17A	probably benign	Het
Vmn2r72	T	A	7: 85,398,854 (GRCm39)	M500L	probably benign	Het

Other mutations in Hnrnpm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00869:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00870:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00886:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00898:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00900:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00901:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00905:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00907:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00908:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00911:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00912:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00920:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00921:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00922:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00923:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00924:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00926:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00927:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00928:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00929:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00930:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00932:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00935:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00938:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00945:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00950:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00952:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00953:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00954:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00955:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00956:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00957:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00958:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00959:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL00960:Hnrnpm	APN	17	33,868,876 (GRCm39)	missense	probably damaging	0.99
IGL01301:Hnrnpm	APN	17	33,888,142 (GRCm39)	critical splice donor site	probably null
IGL02152:Hnrnpm	APN	17	33,877,386 (GRCm39)	missense	probably damaging	1.00
IGL02319:Hnrnpm	APN	17	33,868,924 (GRCm39)	missense	probably damaging	0.98
IGL02487:Hnrnpm	APN	17	33,867,787 (GRCm39)	missense	probably damaging	1.00
IGL03099:Hnrnpm	APN	17	33,888,146 (GRCm39)	missense	probably damaging	1.00
ANU18:Hnrnpm	UTSW	17	33,888,142 (GRCm39)	critical splice donor site	probably null
E0370:Hnrnpm	UTSW	17	33,877,896 (GRCm39)	splice site	probably benign
R0153:Hnrnpm	UTSW	17	33,865,489 (GRCm39)	missense	probably damaging	0.99
R0254:Hnrnpm	UTSW	17	33,871,242 (GRCm39)	splice site	probably null
R0606:Hnrnpm	UTSW	17	33,877,364 (GRCm39)	missense	probably damaging	0.97
R0940:Hnrnpm	UTSW	17	33,868,976 (GRCm39)	missense	probably damaging	1.00
R1216:Hnrnpm	UTSW	17	33,868,687 (GRCm39)	missense	probably damaging	0.99
R1392:Hnrnpm	UTSW	17	33,877,389 (GRCm39)	missense	possibly damaging	0.62
R1392:Hnrnpm	UTSW	17	33,877,389 (GRCm39)	missense	possibly damaging	0.62
R1454:Hnrnpm	UTSW	17	33,885,462 (GRCm39)	splice site	probably benign
R2011:Hnrnpm	UTSW	17	33,883,598 (GRCm39)	missense	probably damaging	1.00
R4678:Hnrnpm	UTSW	17	33,869,185 (GRCm39)	missense	possibly damaging	0.54
R4926:Hnrnpm	UTSW	17	33,868,775 (GRCm39)	missense	probably damaging	0.97
R7456:Hnrnpm	UTSW	17	33,865,622 (GRCm39)	missense	possibly damaging	0.95
R8695:Hnrnpm	UTSW	17	33,877,884 (GRCm39)	missense	probably benign	0.00
R9079:Hnrnpm	UTSW	17	33,868,775 (GRCm39)	missense	probably damaging	0.97
R9626:Hnrnpm	UTSW	17	33,896,264 (GRCm39)	missense	probably damaging	1.00
Z1177:Hnrnpm	UTSW	17	33,877,375 (GRCm39)	missense	probably benign	0.00
Z1177:Hnrnpm	UTSW	17	33,865,719 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16