Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01301:Hnrnpm'

73257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpm

Ensembl Gene

ENSMUSG00000059208

Gene Name

heterogeneous nuclear ribonucleoprotein M

Synonyms

Hnrpm, 2610023M21Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

33646233-33686860 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 33669168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120115 (fasta)

Gene Model

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

AlphaFold

Q9D0E1

Predicted Effect

probably null
Transcript: ENSMUST00000087582

SMART Domains

Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208

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 null
Transcript: ENSMUST00000114385

SMART Domains

Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208

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 null
Transcript: ENSMUST00000139302

SMART Domains

Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208

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 null
Transcript: ENSMUST00000148178

SMART Domains

Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153608

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	Het

Other mutations in Hnrnpm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00869:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00870:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00886:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00898:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00900:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00901:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00905:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00907:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00908:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00911:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00912:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00920:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00921:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00922:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00923:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00924:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00926:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00927:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00928:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00929:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00930:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00931:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00932:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00935:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00938:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00945:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00950:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00952:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00953:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00954:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00955:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00956:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00957:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00958:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00959:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL00960:Hnrnpm	APN	17	33649902	missense	probably damaging	0.99
IGL02152:Hnrnpm	APN	17	33658412	missense	probably damaging	1.00
IGL02319:Hnrnpm	APN	17	33649950	missense	probably damaging	0.98
IGL02487:Hnrnpm	APN	17	33648813	missense	probably damaging	1.00
IGL03099:Hnrnpm	APN	17	33669172	missense	probably damaging	1.00
ANU18:Hnrnpm	UTSW	17	33669168	critical splice donor site	probably null
E0370:Hnrnpm	UTSW	17	33658922	splice site	probably benign
R0153:Hnrnpm	UTSW	17	33646515	missense	probably damaging	0.99
R0254:Hnrnpm	UTSW	17	33652268	splice site	probably null
R0606:Hnrnpm	UTSW	17	33658390	missense	probably damaging	0.97
R0940:Hnrnpm	UTSW	17	33650002	missense	probably damaging	1.00
R1216:Hnrnpm	UTSW	17	33649713	missense	probably damaging	0.99
R1392:Hnrnpm	UTSW	17	33658415	missense	possibly damaging	0.62
R1392:Hnrnpm	UTSW	17	33658415	missense	possibly damaging	0.62
R1454:Hnrnpm	UTSW	17	33666488	splice site	probably benign
R2011:Hnrnpm	UTSW	17	33664624	missense	probably damaging	1.00
R4678:Hnrnpm	UTSW	17	33650211	missense	possibly damaging	0.54
R4926:Hnrnpm	UTSW	17	33649801	missense	probably damaging	0.97
R7456:Hnrnpm	UTSW	17	33646648	missense	possibly damaging	0.95
R8695:Hnrnpm	UTSW	17	33658910	missense	probably benign	0.00
R9079:Hnrnpm	UTSW	17	33649801	missense	probably damaging	0.97
Z1177:Hnrnpm	UTSW	17	33646745	missense	probably damaging	1.00
Z1177:Hnrnpm	UTSW	17	33658401	missense	probably benign	0.00

Posted On

2013-10-07