Incidental Mutation 'R5200:Tmtc4'
| ID |
400724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc4
|
| Ensembl Gene |
ENSMUSG00000041594 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 4 |
| Synonyms |
4930403J22Rik, 5730419O14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123182969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 243
(D243A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037726]
[ENSMUST00000126867]
[ENSMUST00000128969]
[ENSMUST00000143189]
[ENSMUST00000148661]
|
| AlphaFold |
Q8BG19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037726
AA Change: D243A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: D243A
| 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: ENSMUST00000126867
AA Change: D243A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: D243A
| 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 benign
Transcript: ENSMUST00000143189
AA Change: D243A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: D243A
| 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 benign
Transcript: ENSMUST00000148661
AA Change: D243A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: D243A
| 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: ENSMUST00000227430
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
| C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
| Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
| Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
| H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
| Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
| Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
| Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
| Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
| Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
| Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
| Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
| Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
| Other mutations in Tmtc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Tmtc4
|
APN |
14 |
123,163,366 (GRCm39) |
splice site |
probably benign |
|
|
IGL01408:Tmtc4
|
APN |
14 |
123,163,366 (GRCm39) |
splice site |
probably benign |
|
|
IGL01487:Tmtc4
|
APN |
14 |
123,163,443 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01694:Tmtc4
|
APN |
14 |
123,210,624 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01934:Tmtc4
|
APN |
14 |
123,165,047 (GRCm39) |
nonsense |
probably null |
|
|
IGL02456:Tmtc4
|
APN |
14 |
123,163,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03116:Tmtc4
|
APN |
14 |
123,165,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03326:Tmtc4
|
APN |
14 |
123,182,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4403001:Tmtc4
|
UTSW |
14 |
123,210,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0344:Tmtc4
|
UTSW |
14 |
123,215,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Tmtc4
|
UTSW |
14 |
123,163,502 (GRCm39) |
splice site |
probably benign |
|
|
R0849:Tmtc4
|
UTSW |
14 |
123,182,966 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1129:Tmtc4
|
UTSW |
14 |
123,180,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1601:Tmtc4
|
UTSW |
14 |
123,182,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1835:Tmtc4
|
UTSW |
14 |
123,179,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1966:Tmtc4
|
UTSW |
14 |
123,165,011 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2024:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2025:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2026:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2027:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2256:Tmtc4
|
UTSW |
14 |
123,178,820 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2439:Tmtc4
|
UTSW |
14 |
123,209,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Tmtc4
|
UTSW |
14 |
123,170,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3002:Tmtc4
|
UTSW |
14 |
123,170,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3894:Tmtc4
|
UTSW |
14 |
123,158,731 (GRCm39) |
splice site |
probably null |
|
|
R4561:Tmtc4
|
UTSW |
14 |
123,200,710 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4926:Tmtc4
|
UTSW |
14 |
123,210,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Tmtc4
|
UTSW |
14 |
123,170,743 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5024:Tmtc4
|
UTSW |
14 |
123,178,714 (GRCm39) |
splice site |
probably null |
|
|
R5104:Tmtc4
|
UTSW |
14 |
123,170,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5536:Tmtc4
|
UTSW |
14 |
123,170,291 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5677:Tmtc4
|
UTSW |
14 |
123,187,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Tmtc4
|
UTSW |
14 |
123,170,565 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6467:Tmtc4
|
UTSW |
14 |
123,163,391 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7317:Tmtc4
|
UTSW |
14 |
123,215,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Tmtc4
|
UTSW |
14 |
123,180,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7539:Tmtc4
|
UTSW |
14 |
123,215,701 (GRCm39) |
splice site |
probably null |
|
|
R7584:Tmtc4
|
UTSW |
14 |
123,215,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7821:Tmtc4
|
UTSW |
14 |
123,209,289 (GRCm39) |
missense |
probably benign |
|
|
R7903:Tmtc4
|
UTSW |
14 |
123,165,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Tmtc4
|
UTSW |
14 |
123,179,224 (GRCm39) |
splice site |
probably benign |
|
|
R9239:Tmtc4
|
UTSW |
14 |
123,165,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9381:Tmtc4
|
UTSW |
14 |
123,163,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9513:Tmtc4
|
UTSW |
14 |
123,209,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9581:Tmtc4
|
UTSW |
14 |
123,187,998 (GRCm39) |
missense |
probably benign |
|
|
R9592:Tmtc4
|
UTSW |
14 |
123,170,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAGCTGCCCCTATGTGAC -3'
(R):5'- GTGGCAGTTCTTTGTAAATACCTGG -3'
Sequencing Primer
(F):5'- TGCCCCTATGTGACTGGGATC -3'
(R):5'- TCTTTGTAAATACCTGGGATTTTGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation