Mutagenetix > Incidental Mutation

Incidental Mutation 'R1392:Hnrnpm'

200898

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpm

Ensembl Gene

ENSMUSG00000059208

Gene Name

heterogeneous nuclear ribonucleoprotein M

Synonyms

2610023M21Rik, Hnrpm

MMRRC Submission

039454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1392 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33865207-33904432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33877389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 325 (S325T)

Ref Sequence

ENSEMBL: ENSMUSP00000084864 (fasta)

Gene Model

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

AlphaFold

Q9D0E1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087582
AA Change: S325T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: S325T

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 benign
Transcript: ENSMUST00000114385
AA Change: S364T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
AA Change: S364T

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

unknown
Transcript: ENSMUST00000130946
AA Change: S45T

SMART Domains

Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208
AA Change: S45T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139302
AA Change: S325T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
AA Change: S325T

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: S364T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: S364T

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

unknown
Transcript: ENSMUST00000148258
AA Change: S170T

SMART Domains

Protein: ENSMUSP00000123580
Gene: ENSMUSG00000059208
AA Change: S170T

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

1x: 97.6%
3x: 97.1%
10x: 95.8%
20x: 94.0%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930005H10Rik	T	C	3: 115,681,653 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,772,311 (GRCm39)		probably benign	Het
Csf1	A	G	3: 107,663,946 (GRCm39)	V74A	probably benign	Het
Dsg4	T	A	18: 20,579,304 (GRCm39)		probably benign	Het
Hunk	T	C	16: 90,269,352 (GRCm39)	S299P	probably damaging	Het
Kcnk4	C	T	19: 6,905,031 (GRCm39)	V207I	possibly damaging	Het
Myo15a	A	G	11: 60,368,800 (GRCm39)	H520R	possibly damaging	Het
Nlrp2	A	G	7: 5,332,014 (GRCm39)		probably benign	Het
Or14c46	A	T	7: 85,918,063 (GRCm39)	F311L	probably benign	Het
Or1n1	A	T	2: 36,750,187 (GRCm39)	Y58N	probably damaging	Het
Pgap4	A	G	4: 49,586,919 (GRCm39)	L83P	probably damaging	Het
Phc2	A	G	4: 128,638,880 (GRCm39)	H607R	possibly damaging	Het
Rsad2	A	G	12: 26,495,439 (GRCm39)	V352A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,856 (GRCm39)	L136P	probably damaging	Het
Smc1b	T	C	15: 84,991,271 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,647,349 (GRCm39)	V993I	probably benign	Het
Tiam2	A	G	17: 3,464,472 (GRCm39)	H67R	possibly damaging	Het
Tmt1b	T	C	10: 128,796,567 (GRCm39)	T81A	possibly damaging	Het
Vmn2r65	A	T	7: 84,596,624 (GRCm39)	S144T	probably benign	Het
Vmn2r77	A	G	7: 86,450,830 (GRCm39)	T239A	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
IGL00931: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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTCCTACATCTCTTCACAACCAGG -3'
(R):5'- GGCCATCCCACCTTTGAAATGTAGTAA -3'

Sequencing Primer
(F):5'- CACAACCAGGTATGTGATTAAGTAG -3'
(R):5'- ctctctaactagctctgtgacc -3'

Posted On

2014-05-23