Incidental Mutation 'R0849:Tmtc4'
| ID |
77091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc4
|
| Ensembl Gene |
ENSMUSG00000041594 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 4 |
| Synonyms |
4930403J22Rik, 5730419O14Rik |
| MMRRC Submission |
039028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0849 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123182966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 244
(I244T)
|
| 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: I244T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: I244T
| 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: I244T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: I244T
| 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 |
possibly damaging
Transcript: ENSMUST00000143189
AA Change: I244T
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: I244T
| 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: I244T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: I244T
| 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: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
| Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
| Armc9 |
G |
A |
1: 86,184,992 (GRCm39) |
R681K |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
| B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,769,352 (GRCm39) |
T721A |
probably damaging |
Het |
| Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,644,418 (GRCm39) |
D622V |
probably damaging |
Het |
| Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
| Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
| Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
| Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
| Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
| Inhca |
A |
C |
9: 103,140,256 (GRCm39) |
Y488D |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
| Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
| Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
| Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
| Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
| Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
| Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
probably damaging |
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 |
|
|
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 |
|
R5200:Tmtc4
|
UTSW |
14 |
123,182,969 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- CCCTGCCCAGTCTGCATAAAAGAG -3'
(R):5'- AGCGTAGCCATCCTCAGTCTTACAG -3'
Sequencing Primer
(F):5'- AAAGCTGCCCCTATGTGACTG -3'
(R):5'- CCAGGGTCTCACTAGGTTCTAAATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation