Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Hnrnpm'

54188

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpm

Ensembl Gene

ENSMUSG00000059208

Gene Name

heterogeneous nuclear ribonucleoprotein M

Synonyms

2610023M21Rik, Hnrpm

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

33865207-33904432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33877364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 53 (N53I)

Gene Model

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

AlphaFold

Q9D0E1

Predicted Effect

probably benign
Transcript: ENSMUST00000087582
AA Change: N333I

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: N333I

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: N372I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
AA Change: N372I

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 damaging
Transcript: ENSMUST00000130946
AA Change: N53I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208
AA Change: N53I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139302
AA Change: N333I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
AA Change: N333I

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: N372I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: N372I

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
AA Change: N178I

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123580
Gene: ENSMUSG00000059208
AA Change: N178I

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

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	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
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

Predicted Primers

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

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

Posted On

2013-07-11