Incidental Mutation 'R2439:Tmtc4'
| ID |
249742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc4
|
| Ensembl Gene |
ENSMUSG00000041594 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 4 |
| Synonyms |
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
122918971-122984035 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122971903 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 110
(N110T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037726]
[ENSMUST00000126867]
[ENSMUST00000128969]
[ENSMUST00000143189]
[ENSMUST00000148661]
|
| AlphaFold |
Q8BG19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037726
AA Change: N110T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: N110T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
|
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
290 |
369 |
3e-35 |
PFAM |
|
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
|
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
TPR
|
482 |
515 |
2.49e-5 |
SMART |
|
TPR
|
516 |
549 |
9.03e-3 |
SMART |
|
TPR
|
550 |
583 |
2.49e-5 |
SMART |
|
TPR
|
584 |
617 |
2.63e-4 |
SMART |
|
TPR
|
618 |
651 |
5.78e-1 |
SMART |
|
TPR
|
652 |
685 |
2.19e-1 |
SMART |
|
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126867
AA Change: N110T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: N110T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
|
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
290 |
369 |
3e-35 |
PFAM |
|
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
|
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
TPR
|
482 |
515 |
2.49e-5 |
SMART |
|
TPR
|
516 |
549 |
9.03e-3 |
SMART |
|
TPR
|
550 |
583 |
2.49e-5 |
SMART |
|
TPR
|
584 |
617 |
2.63e-4 |
SMART |
|
TPR
|
618 |
651 |
5.78e-1 |
SMART |
|
TPR
|
652 |
685 |
2.19e-1 |
SMART |
|
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135917
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143189
AA Change: N110T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: N110T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
200 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148661
AA Change: N110T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: N110T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
|
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
292 |
366 |
4.4e-36 |
PFAM |
|
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
|
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
TPR
|
482 |
515 |
2.49e-5 |
SMART |
|
TPR
|
516 |
549 |
9.03e-3 |
SMART |
|
TPR
|
550 |
583 |
2.49e-5 |
SMART |
|
TPR
|
584 |
617 |
2.63e-4 |
SMART |
|
TPR
|
618 |
651 |
5.78e-1 |
SMART |
|
TPR
|
652 |
685 |
2.19e-1 |
SMART |
|
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228552
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210407C18Rik |
A |
G |
11: 58,610,777 |
C127R |
probably damaging |
Het |
| Atp11b |
C |
A |
3: 35,814,084 |
T635K |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,274,043 |
H196N |
probably damaging |
Het |
| Btla |
G |
T |
16: 45,239,140 |
C69F |
probably damaging |
Het |
| Cdh10 |
T |
G |
15: 19,013,398 |
L695V |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,481,246 |
|
probably benign |
Het |
| Dock10 |
T |
G |
1: 80,532,432 |
N1560H |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,618,735 |
H809Q |
probably benign |
Het |
| Eprs |
G |
A |
1: 185,379,742 |
|
probably null |
Het |
| Gdf7 |
A |
G |
12: 8,298,050 |
S416P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,225,725 |
M611V |
probably benign |
Het |
| Micalcl |
A |
G |
7: 112,394,795 |
E504G |
probably damaging |
Het |
| Mrps30 |
G |
A |
13: 118,385,272 |
P231S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,190,220 |
D256G |
probably benign |
Het |
| Pramel5 |
T |
C |
4: 144,273,740 |
M89V |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,346,119 |
T386A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,066,152 |
V1180A |
possibly damaging |
Het |
| Rassf8 |
T |
C |
6: 145,815,334 |
S129P |
probably damaging |
Het |
| Rbm6 |
A |
G |
9: 107,779,597 |
Y994H |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,154,061 |
1814 |
probably null |
Het |
| Slc2a4 |
A |
G |
11: 69,945,625 |
F222S |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,691,454 |
|
probably null |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,417,267 |
|
probably benign |
Het |
| Umad1 |
T |
A |
6: 8,427,078 |
D110E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,014,117 |
|
probably benign |
Het |
|
| Other mutations in Tmtc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Tmtc4
|
APN |
14 |
122925954 |
splice site |
probably benign |
|
|
IGL01408:Tmtc4
|
APN |
14 |
122925954 |
splice site |
probably benign |
|
|
IGL01487:Tmtc4
|
APN |
14 |
122926031 |
missense |
probably benign |
0.25 |
|
IGL01694:Tmtc4
|
APN |
14 |
122973212 |
missense |
possibly damaging |
0.92 |
|
IGL01934:Tmtc4
|
APN |
14 |
122927635 |
nonsense |
probably null |
|
|
IGL02456:Tmtc4
|
APN |
14 |
122925962 |
critical splice donor site |
probably null |
|
|
IGL03116:Tmtc4
|
APN |
14 |
122927632 |
missense |
probably benign |
0.02 |
|
IGL03326:Tmtc4
|
APN |
14 |
122945540 |
missense |
probably damaging |
0.99 |
|
PIT4403001:Tmtc4
|
UTSW |
14 |
122973229 |
missense |
probably benign |
0.01 |
|
R0344:Tmtc4
|
UTSW |
14 |
122978160 |
missense |
probably damaging |
1.00 |
|
R0630:Tmtc4
|
UTSW |
14 |
122926090 |
splice site |
probably benign |
|
|
R0849:Tmtc4
|
UTSW |
14 |
122945554 |
missense |
possibly damaging |
0.62 |
|
R1129:Tmtc4
|
UTSW |
14 |
122943153 |
critical splice donor site |
probably null |
|
|
R1601:Tmtc4
|
UTSW |
14 |
122944826 |
missense |
probably benign |
0.01 |
|
R1835:Tmtc4
|
UTSW |
14 |
122941988 |
critical splice acceptor site |
probably null |
|
|
R1966:Tmtc4
|
UTSW |
14 |
122927599 |
missense |
probably benign |
0.31 |
|
R2024:Tmtc4
|
UTSW |
14 |
122921265 |
missense |
probably benign |
0.02 |
|
R2025:Tmtc4
|
UTSW |
14 |
122921265 |
missense |
probably benign |
0.02 |
|
R2026:Tmtc4
|
UTSW |
14 |
122921265 |
missense |
probably benign |
0.02 |
|
R2027:Tmtc4
|
UTSW |
14 |
122921265 |
missense |
probably benign |
0.02 |
|
R2256:Tmtc4
|
UTSW |
14 |
122941408 |
missense |
probably benign |
0.09 |
|
R3001:Tmtc4
|
UTSW |
14 |
122932818 |
critical splice donor site |
probably null |
|
|
R3002:Tmtc4
|
UTSW |
14 |
122932818 |
critical splice donor site |
probably null |
|
|
R3894:Tmtc4
|
UTSW |
14 |
122921319 |
splice site |
probably null |
|
|
R4561:Tmtc4
|
UTSW |
14 |
122963298 |
missense |
probably benign |
0.21 |
|
R4926:Tmtc4
|
UTSW |
14 |
122973206 |
missense |
probably damaging |
1.00 |
|
R5000:Tmtc4
|
UTSW |
14 |
122933331 |
missense |
possibly damaging |
0.46 |
|
R5024:Tmtc4
|
UTSW |
14 |
122941302 |
splice site |
probably null |
|
|
R5104:Tmtc4
|
UTSW |
14 |
122932845 |
missense |
probably damaging |
0.99 |
|
R5200:Tmtc4
|
UTSW |
14 |
122945557 |
missense |
probably benign |
0.05 |
|
R5536:Tmtc4
|
UTSW |
14 |
122932879 |
missense |
probably benign |
0.09 |
|
R5677:Tmtc4
|
UTSW |
14 |
122950499 |
missense |
probably damaging |
1.00 |
|
R5768:Tmtc4
|
UTSW |
14 |
122933153 |
missense |
possibly damaging |
0.91 |
|
R6467:Tmtc4
|
UTSW |
14 |
122925979 |
missense |
possibly damaging |
0.80 |
|
R7317:Tmtc4
|
UTSW |
14 |
122978181 |
missense |
probably benign |
0.00 |
|
R7516:Tmtc4
|
UTSW |
14 |
122943323 |
missense |
possibly damaging |
0.68 |
|
R7539:Tmtc4
|
UTSW |
14 |
122978289 |
splice site |
probably null |
|
|
R7584:Tmtc4
|
UTSW |
14 |
122978151 |
missense |
probably benign |
0.01 |
|
R7821:Tmtc4
|
UTSW |
14 |
122971877 |
missense |
probably benign |
|
|
R7903:Tmtc4
|
UTSW |
14 |
122927648 |
missense |
probably benign |
0.00 |
|
R8969:Tmtc4
|
UTSW |
14 |
122941812 |
splice site |
probably benign |
|
|
R9239:Tmtc4
|
UTSW |
14 |
122927666 |
missense |
possibly damaging |
0.81 |
|
R9381:Tmtc4
|
UTSW |
14 |
122926029 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGTGGGCGATACTTACAC -3'
(R):5'- GACTTTGGACTCTATCGGTGC -3'
Sequencing Primer
(F):5'- TGTGGGCGATACTTACACACTCAG -3'
(R):5'- GGACTCTATCGGTGCCCTTTTC -3'
|
| Posted On |
2014-11-12 |
