Incidental Mutation 'R0654:Tmcc1'
| ID |
62431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmcc1
|
| Ensembl Gene |
ENSMUSG00000030126 |
| Gene Name |
transmembrane and coiled coil domains 1 |
| Synonyms |
3632431M01Rik |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.367)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116019951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 281
(H281Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
| AlphaFold |
Q69ZZ6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032222
AA Change: H500Q
|
| SMART Domains |
Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: H500Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
|
Pfam:Tmemb_cc2
|
268 |
677 |
9.7e-170 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088896
AA Change: H460Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: H460Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
Pfam:Tmemb_cc2
|
227 |
636 |
2.3e-170 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172510
AA Change: H140Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133665
Gene: ENSMUSG00000030126
AA Change: H140Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
1 |
188 |
6.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172909
|
| SMART Domains |
Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173110
|
| SMART Domains |
Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173140
AA Change: H140Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134455
Gene: ENSMUSG00000030126
AA Change: H140Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
1 |
79 |
6.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173548
AA Change: H281Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126
AA Change: H281Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204353
AA Change: H285Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126
AA Change: H285Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
Het |
|
| Other mutations in Tmcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Tmcc1
|
APN |
6 |
116,019,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01580:Tmcc1
|
APN |
6 |
116,019,946 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02858:Tmcc1
|
APN |
6 |
116,110,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Tmcc1
|
APN |
6 |
116,110,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Dominus_dei
|
UTSW |
6 |
116,111,198 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Tmcc1
|
UTSW |
6 |
116,170,341 (GRCm39) |
start gained |
probably benign |
|
|
IGL02988:Tmcc1
|
UTSW |
6 |
116,019,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Tmcc1
|
UTSW |
6 |
116,020,417 (GRCm39) |
missense |
|
|
|
R0522:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R0721:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R1392:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1573:Tmcc1
|
UTSW |
6 |
116,110,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1644:Tmcc1
|
UTSW |
6 |
116,110,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Tmcc1
|
UTSW |
6 |
116,020,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2065:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2214:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2240:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2399:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R3683:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R3722:Tmcc1
|
UTSW |
6 |
116,110,783 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3926:Tmcc1
|
UTSW |
6 |
116,019,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Tmcc1
|
UTSW |
6 |
116,020,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Tmcc1
|
UTSW |
6 |
116,110,765 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4619:Tmcc1
|
UTSW |
6 |
116,020,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5246:Tmcc1
|
UTSW |
6 |
116,020,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6364:Tmcc1
|
UTSW |
6 |
116,020,722 (GRCm39) |
start gained |
probably benign |
|
|
R7238:Tmcc1
|
UTSW |
6 |
116,111,198 (GRCm39) |
nonsense |
probably null |
|
|
R7257:Tmcc1
|
UTSW |
6 |
116,084,299 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7603:Tmcc1
|
UTSW |
6 |
116,020,092 (GRCm39) |
nonsense |
probably null |
|
|
R7693:Tmcc1
|
UTSW |
6 |
116,001,843 (GRCm39) |
missense |
|
|
|
R7694:Tmcc1
|
UTSW |
6 |
116,110,805 (GRCm39) |
missense |
|
|
|
R7698:Tmcc1
|
UTSW |
6 |
116,020,763 (GRCm39) |
nonsense |
probably null |
|
|
R7798:Tmcc1
|
UTSW |
6 |
116,020,539 (GRCm39) |
missense |
|
|
|
R8158:Tmcc1
|
UTSW |
6 |
116,020,435 (GRCm39) |
missense |
|
|
|
R8808:Tmcc1
|
UTSW |
6 |
116,111,099 (GRCm39) |
missense |
|
|
|
R8808:Tmcc1
|
UTSW |
6 |
116,111,098 (GRCm39) |
missense |
|
|
|
R9222:Tmcc1
|
UTSW |
6 |
116,020,049 (GRCm39) |
missense |
|
|
|
R9369:Tmcc1
|
UTSW |
6 |
116,111,050 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9753:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTTCGCGTTAAAGTCATAAACTGG -3'
(R):5'- GAGAGATTGCCTCACTGATTCGGAAC -3'
Sequencing Primer
(F):5'- CTGACGAAAAACTCTTGTGGC -3'
(R):5'- TGGTAGTGCAGACAATATCCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation