Incidental Mutation 'R5607:Smg7'
ID |
439317 |
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 |
043271-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
R5607 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152718985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 914
(L914P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
AlphaFold |
Q5RJH6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043560
AA Change: L922P
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041241 Gene: ENSMUSG00000042772 AA Change: L922P
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 benign
Transcript: ENSMUST00000073441
|
SMART Domains |
Protein: ENSMUSP00000073144 Gene: ENSMUSG00000042772
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: L914P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107467 Gene: ENSMUSG00000042772 AA Change: L914P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188937
|
Meta Mutation Damage Score |
0.2385 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
Validation Efficiency |
96% (54/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
Ajap1 |
T |
A |
4: 153,516,661 (GRCm39) |
T227S |
possibly damaging |
Het |
Ankmy1 |
A |
G |
1: 92,804,740 (GRCm39) |
F851S |
probably damaging |
Het |
Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
Cacna1e |
T |
A |
1: 154,347,086 (GRCm39) |
N1027I |
probably benign |
Het |
Cacng4 |
A |
T |
11: 107,625,610 (GRCm39) |
V327E |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,303,143 (GRCm39) |
V199A |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
Ctnna1 |
A |
G |
18: 35,382,795 (GRCm39) |
D647G |
probably benign |
Het |
Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
Exoc6 |
T |
A |
19: 37,566,977 (GRCm39) |
V258D |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
G |
A |
1: 174,437,377 (GRCm39) |
C1116Y |
probably damaging |
Het |
H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
Mcm6 |
T |
C |
1: 128,283,326 (GRCm39) |
T60A |
probably damaging |
Het |
Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
Mmp14 |
T |
C |
14: 54,676,869 (GRCm39) |
Y428H |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,771,227 (GRCm39) |
V933A |
probably damaging |
Het |
Nepn |
A |
T |
10: 52,277,233 (GRCm39) |
D323V |
probably benign |
Het |
Nrf1 |
C |
T |
6: 30,126,245 (GRCm39) |
A150V |
probably damaging |
Het |
Nxpe5 |
A |
G |
5: 138,238,033 (GRCm39) |
T199A |
probably benign |
Het |
Obscn |
T |
G |
11: 59,013,674 (GRCm39) |
K1150Q |
probably benign |
Het |
Or12j5 |
A |
C |
7: 140,084,318 (GRCm39) |
V18G |
probably benign |
Het |
Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
Or7a38 |
A |
G |
10: 78,752,933 (GRCm39) |
I86M |
possibly damaging |
Het |
Or7e170 |
T |
A |
9: 19,795,272 (GRCm39) |
M110L |
probably benign |
Het |
Otop1 |
G |
A |
5: 38,451,848 (GRCm39) |
G184S |
possibly damaging |
Het |
Pkp2 |
G |
T |
16: 16,078,239 (GRCm39) |
D494Y |
probably damaging |
Het |
Pop5 |
G |
A |
5: 115,378,260 (GRCm39) |
R68Q |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,800,223 (GRCm39) |
D518G |
probably benign |
Het |
Preb |
G |
T |
5: 31,117,307 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
Rag1 |
G |
A |
2: 101,474,137 (GRCm39) |
T335I |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
Sf3a3 |
A |
T |
4: 124,608,746 (GRCm39) |
D20V |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,631,312 (GRCm39) |
N649D |
probably benign |
Het |
Smarcal1 |
A |
G |
1: 72,625,372 (GRCm39) |
D173G |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 56,005,246 (GRCm39) |
S796T |
possibly damaging |
Het |
Tex14 |
A |
G |
11: 87,413,404 (GRCm39) |
T1052A |
probably benign |
Het |
Tspan1 |
A |
G |
4: 116,021,277 (GRCm39) |
V109A |
possibly damaging |
Het |
Ttbk2 |
A |
G |
2: 120,637,305 (GRCm39) |
V51A |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,245,126 (GRCm39) |
C1633* |
probably null |
Het |
Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,805,318 (GRCm39) |
E513G |
possibly damaging |
Het |
Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
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 |
R2235: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 |
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'- GTGTACCCAGGCTATGACTCTC -3'
(R):5'- AATTGCATCTCACAGTGATCCTTTC -3'
Sequencing Primer
(F):5'- CCAGGCTATGACTCTCTAATTTGAGG -3'
(R):5'- TTTCTGTCACTAGGACCCCAAGAG -3'
|
Posted On |
2016-10-26 |