Incidental Mutation 'R2235:Smg7'
| ID |
240366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smg7
|
| Ensembl Gene |
ENSMUSG00000042772 |
| Gene Name |
SMG7 nonsense mediated mRNA decay factor |
| Synonyms |
9430023P16Rik, Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) |
| MMRRC Submission |
040236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R2235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152744064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 40
(Y40N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
| AlphaFold |
Q5RJH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043560
AA Change: Y48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: Y48N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EST1
|
63 |
177 |
3.4e-30 |
PFAM |
|
Pfam:EST1_DNA_bind
|
179 |
438 |
3.3e-64 |
PFAM |
|
low complexity region
|
457 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
898 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073441
AA Change: Y40N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: Y40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EST1
|
52 |
172 |
2.3e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
171 |
430 |
3.6e-66 |
PFAM |
|
low complexity region
|
449 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1022 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111836
AA Change: Y40N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: Y40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EST1
|
52 |
172 |
2.3e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
171 |
430 |
3.7e-66 |
PFAM |
|
low complexity region
|
449 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186692
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
| Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
| Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
| Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
probably benign |
Het |
|
| Other mutations in Smg7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Smg7
|
APN |
1 |
152,719,812 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02320:Smg7
|
APN |
1 |
152,744,088 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02336:Smg7
|
APN |
1 |
152,719,030 (GRCm39) |
missense |
probably benign |
|
|
IGL02680:Smg7
|
APN |
1 |
152,721,145 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03232:Smg7
|
APN |
1 |
152,715,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chill
|
UTSW |
1 |
152,715,887 (GRCm39) |
splice site |
probably null |
|
|
R0322:Smg7
|
UTSW |
1 |
152,725,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0540:Smg7
|
UTSW |
1 |
152,731,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0685:Smg7
|
UTSW |
1 |
152,742,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Smg7
|
UTSW |
1 |
152,746,508 (GRCm39) |
splice site |
probably null |
|
|
R1109:Smg7
|
UTSW |
1 |
152,721,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Smg7
|
UTSW |
1 |
152,742,326 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Smg7
|
UTSW |
1 |
152,742,326 (GRCm39) |
splice site |
probably benign |
|
|
R1458:Smg7
|
UTSW |
1 |
152,731,594 (GRCm39) |
splice site |
probably null |
|
|
R1759:Smg7
|
UTSW |
1 |
152,724,597 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1846:Smg7
|
UTSW |
1 |
152,724,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Smg7
|
UTSW |
1 |
152,736,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Smg7
|
UTSW |
1 |
152,716,064 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2199:Smg7
|
UTSW |
1 |
152,730,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Smg7
|
UTSW |
1 |
152,744,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Smg7
|
UTSW |
1 |
152,728,349 (GRCm39) |
missense |
probably null |
1.00 |
|
R4597:Smg7
|
UTSW |
1 |
152,716,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4672:Smg7
|
UTSW |
1 |
152,721,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Smg7
|
UTSW |
1 |
152,720,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5486:Smg7
|
UTSW |
1 |
152,721,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5607:Smg7
|
UTSW |
1 |
152,718,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6131:Smg7
|
UTSW |
1 |
152,720,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6396:Smg7
|
UTSW |
1 |
152,724,351 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6401:Smg7
|
UTSW |
1 |
152,715,887 (GRCm39) |
splice site |
probably null |
|
|
R6905:Smg7
|
UTSW |
1 |
152,725,757 (GRCm39) |
splice site |
probably null |
|
|
R6961:Smg7
|
UTSW |
1 |
152,717,334 (GRCm39) |
nonsense |
probably null |
|
|
R7051:Smg7
|
UTSW |
1 |
152,724,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Smg7
|
UTSW |
1 |
152,753,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7146:Smg7
|
UTSW |
1 |
152,737,576 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7573:Smg7
|
UTSW |
1 |
152,735,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Smg7
|
UTSW |
1 |
152,721,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Smg7
|
UTSW |
1 |
152,717,295 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7956:Smg7
|
UTSW |
1 |
152,719,953 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8167:Smg7
|
UTSW |
1 |
152,720,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8751:Smg7
|
UTSW |
1 |
152,719,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8905:Smg7
|
UTSW |
1 |
152,715,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Smg7
|
UTSW |
1 |
152,715,928 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9229:Smg7
|
UTSW |
1 |
152,720,971 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9260:Smg7
|
UTSW |
1 |
152,737,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Smg7
|
UTSW |
1 |
152,721,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Smg7
|
UTSW |
1 |
152,731,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9519:Smg7
|
UTSW |
1 |
152,735,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Smg7
|
UTSW |
1 |
152,736,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTACCTTCAGAGACTACAGCTG -3'
(R):5'- CATAAACCCTGTGCAGCAGTG -3'
Sequencing Primer
(F):5'- GCTTACACTAGGGTAGTCTG -3'
(R):5'- CCTGTGCAGCAGTGGATGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation