Incidental Mutation 'R0975:Tonsl'
| ID |
81103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tonsl
|
| Ensembl Gene |
ENSMUSG00000059323 |
| Gene Name |
tonsoku-like, DNA repair protein |
| Synonyms |
Nfkbil2, 2810439M11Rik |
| MMRRC Submission |
039104-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76510437-76524129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76523132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 119
(D119V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081291]
[ENSMUST00000165190]
[ENSMUST00000166974]
[ENSMUST00000168185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081291
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
|
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165190
AA Change: D119V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323
AA Change: D119V
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
27 |
60 |
5.33e1 |
SMART |
|
Blast:TPR
|
67 |
100 |
4e-9 |
BLAST |
|
TPR
|
162 |
195 |
1.77e1 |
SMART |
|
TPR
|
202 |
235 |
1.36e1 |
SMART |
|
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
|
TPR
|
311 |
344 |
1.4e1 |
SMART |
|
TPR
|
352 |
385 |
7.27e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166974
AA Change: D40V
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168185
AA Change: D119V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: D119V
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
27 |
60 |
5.33e1 |
SMART |
|
Blast:TPR
|
67 |
100 |
7e-9 |
BLAST |
|
TPR
|
162 |
195 |
1.77e1 |
SMART |
|
TPR
|
202 |
235 |
1.36e1 |
SMART |
|
Pfam:TPR_8
|
242 |
274 |
8.7e-3 |
PFAM |
|
TPR
|
311 |
344 |
1.4e1 |
SMART |
|
TPR
|
352 |
385 |
7.27e0 |
SMART |
|
low complexity region
|
413 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
ANK
|
528 |
559 |
8.36e1 |
SMART |
|
ANK
|
561 |
590 |
4.85e-8 |
SMART |
|
ANK
|
597 |
626 |
2.85e-5 |
SMART |
|
low complexity region
|
690 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1044 |
N/A |
INTRINSIC |
|
LRR
|
1058 |
1085 |
2.86e-1 |
SMART |
|
LRR
|
1086 |
1113 |
5.88e-1 |
SMART |
|
LRR
|
1117 |
1144 |
1.67e-2 |
SMART |
|
LRR
|
1177 |
1204 |
2.72e0 |
SMART |
|
LRR
|
1236 |
1263 |
7.02e0 |
SMART |
|
LRR
|
1264 |
1292 |
1.46e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168432
|
| Meta Mutation Damage Score |
0.1766 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,155 (GRCm39) |
F690L |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,984,437 (GRCm39) |
Y464C |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,888,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,563,927 (GRCm39) |
N299K |
possibly damaging |
Het |
| Atl3 |
G |
A |
19: 7,498,500 (GRCm39) |
W210* |
probably null |
Het |
| Bag1 |
T |
C |
4: 40,937,152 (GRCm39) |
N320D |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,898,274 (GRCm39) |
N24D |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,823,993 (GRCm39) |
P1420L |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,614 (GRCm39) |
P304S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,648,619 (GRCm39) |
I969F |
possibly damaging |
Het |
| Coro1c |
C |
G |
5: 114,020,182 (GRCm39) |
R11P |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,004,165 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,597,622 (GRCm39) |
K459Q |
possibly damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,691,802 (GRCm39) |
T374A |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,857,532 (GRCm39) |
N289I |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,435,307 (GRCm39) |
I126N |
probably damaging |
Het |
| Esr2 |
C |
T |
12: 76,192,082 (GRCm39) |
M315I |
possibly damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,307 (GRCm39) |
N449I |
probably benign |
Het |
| Frmpd1 |
C |
T |
4: 45,279,000 (GRCm39) |
T575I |
probably benign |
Het |
| Gm14403 |
T |
G |
2: 177,201,217 (GRCm39) |
N145K |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,942,171 (GRCm39) |
D392G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,453,128 (GRCm39) |
S5396A |
probably benign |
Het |
| Hoxd12 |
G |
T |
2: 74,506,278 (GRCm39) |
R230L |
probably damaging |
Het |
| Khsrp |
T |
A |
17: 57,334,066 (GRCm39) |
D154V |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,462 (GRCm39) |
R344H |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 40,924,925 (GRCm39) |
E134G |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,742 (GRCm39) |
Q113* |
probably null |
Het |
| Mug1 |
A |
T |
6: 121,855,498 (GRCm39) |
D944V |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,826 (GRCm39) |
S950P |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Or1n1b |
C |
A |
2: 36,780,562 (GRCm39) |
M99I |
possibly damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,513 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,829,832 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,143,907 (GRCm39) |
|
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,399,500 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,472,320 (GRCm39) |
|
probably null |
Het |
| Recql5 |
A |
C |
11: 115,814,082 (GRCm39) |
D240E |
probably damaging |
Het |
| Sec31a |
A |
C |
5: 100,543,763 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,241 (GRCm39) |
V265A |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,165,735 (GRCm39) |
D7V |
possibly damaging |
Het |
| Stk31 |
C |
G |
6: 49,400,343 (GRCm39) |
D389E |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,893,966 (GRCm39) |
A146T |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,121,843 (GRCm39) |
|
probably benign |
Het |
| Trmt10a |
G |
A |
3: 137,862,570 (GRCm39) |
E287K |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,633 (GRCm39) |
M196L |
probably damaging |
Het |
| Vmn2r9 |
T |
G |
5: 108,991,169 (GRCm39) |
T731P |
probably damaging |
Het |
| Wfdc6b |
G |
A |
2: 164,455,705 (GRCm39) |
M11I |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,925,077 (GRCm39) |
T32S |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,814 (GRCm39) |
T327A |
probably benign |
Het |
|
| Other mutations in Tonsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Tonsl
|
APN |
15 |
76,522,696 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00763:Tonsl
|
APN |
15 |
76,518,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Tonsl
|
APN |
15 |
76,509,349 (GRCm39) |
missense |
probably benign |
|
|
IGL00965:Tonsl
|
APN |
15 |
76,516,080 (GRCm39) |
splice site |
probably benign |
|
|
IGL01434:Tonsl
|
APN |
15 |
76,515,302 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01859:Tonsl
|
APN |
15 |
76,518,980 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02112:Tonsl
|
APN |
15 |
76,517,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02189:Tonsl
|
APN |
15 |
76,507,378 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02281:Tonsl
|
APN |
15 |
76,518,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02627:Tonsl
|
APN |
15 |
76,518,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Tonsl
|
APN |
15 |
76,517,589 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02977:Tonsl
|
APN |
15 |
76,517,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Tonsl
|
UTSW |
15 |
76,517,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0316:Tonsl
|
UTSW |
15 |
76,513,500 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0443:Tonsl
|
UTSW |
15 |
76,523,884 (GRCm39) |
missense |
probably benign |
|
|
R0714:Tonsl
|
UTSW |
15 |
76,517,921 (GRCm39) |
splice site |
probably benign |
|
|
R0946:Tonsl
|
UTSW |
15 |
76,507,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1263:Tonsl
|
UTSW |
15 |
76,506,762 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1468:Tonsl
|
UTSW |
15 |
76,520,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1468:Tonsl
|
UTSW |
15 |
76,520,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1610:Tonsl
|
UTSW |
15 |
76,522,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Tonsl
|
UTSW |
15 |
76,522,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Tonsl
|
UTSW |
15 |
76,522,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Tonsl
|
UTSW |
15 |
76,508,350 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1898:Tonsl
|
UTSW |
15 |
76,523,053 (GRCm39) |
splice site |
probably null |
|
|
R1932:Tonsl
|
UTSW |
15 |
76,508,797 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2141:Tonsl
|
UTSW |
15 |
76,516,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2166:Tonsl
|
UTSW |
15 |
76,521,513 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2191:Tonsl
|
UTSW |
15 |
76,516,880 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2198:Tonsl
|
UTSW |
15 |
76,520,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Tonsl
|
UTSW |
15 |
76,518,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2762:Tonsl
|
UTSW |
15 |
76,514,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Tonsl
|
UTSW |
15 |
76,523,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Tonsl
|
UTSW |
15 |
76,523,956 (GRCm39) |
missense |
probably benign |
|
|
R4012:Tonsl
|
UTSW |
15 |
76,521,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Tonsl
|
UTSW |
15 |
76,508,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4180:Tonsl
|
UTSW |
15 |
76,508,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Tonsl
|
UTSW |
15 |
76,523,916 (GRCm39) |
missense |
probably benign |
|
|
R4627:Tonsl
|
UTSW |
15 |
76,521,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Tonsl
|
UTSW |
15 |
76,507,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4825:Tonsl
|
UTSW |
15 |
76,517,448 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4840:Tonsl
|
UTSW |
15 |
76,517,409 (GRCm39) |
missense |
probably benign |
|
|
R5030:Tonsl
|
UTSW |
15 |
76,522,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5143:Tonsl
|
UTSW |
15 |
76,520,857 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6238:Tonsl
|
UTSW |
15 |
76,520,418 (GRCm39) |
splice site |
probably null |
|
|
R6379:Tonsl
|
UTSW |
15 |
76,513,942 (GRCm39) |
missense |
probably benign |
|
|
R6401:Tonsl
|
UTSW |
15 |
76,517,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6534:Tonsl
|
UTSW |
15 |
76,513,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Tonsl
|
UTSW |
15 |
76,514,018 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6701:Tonsl
|
UTSW |
15 |
76,513,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Tonsl
|
UTSW |
15 |
76,518,976 (GRCm39) |
missense |
probably benign |
|
|
R7206:Tonsl
|
UTSW |
15 |
76,517,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Tonsl
|
UTSW |
15 |
76,517,925 (GRCm39) |
splice site |
probably null |
|
|
R7615:Tonsl
|
UTSW |
15 |
76,514,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7626:Tonsl
|
UTSW |
15 |
76,518,136 (GRCm39) |
missense |
probably null |
1.00 |
|
R7641:Tonsl
|
UTSW |
15 |
76,517,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Tonsl
|
UTSW |
15 |
76,518,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Tonsl
|
UTSW |
15 |
76,521,022 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8311:Tonsl
|
UTSW |
15 |
76,517,463 (GRCm39) |
missense |
probably benign |
|
|
R8679:Tonsl
|
UTSW |
15 |
76,518,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Tonsl
|
UTSW |
15 |
76,517,076 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9093:Tonsl
|
UTSW |
15 |
76,515,270 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9143:Tonsl
|
UTSW |
15 |
76,514,824 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9278:Tonsl
|
UTSW |
15 |
76,520,971 (GRCm39) |
intron |
probably benign |
|
|
R9286:Tonsl
|
UTSW |
15 |
76,515,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tonsl
|
UTSW |
15 |
76,520,353 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCAAGCCTGAAGAGCAACAC -3'
(R):5'- GGCAGAACAGCCATTGCCATAGAC -3'
Sequencing Primer
(F):5'- CCACAATAGCCAAGCTCTTCTC -3'
(R):5'- GCCATAGACAGTCCTTTGCATAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation