Incidental Mutation 'IGL00950:Hnrnpm'
| ID |
278107 |
| 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)
|
| Stock # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
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 |
|
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 |
Incidental Mutation