Incidental Mutation 'R7603:Tmcc1'
ID |
588115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc1
|
Ensembl Gene |
ENSMUSG00000030126 |
Gene Name |
transmembrane and coiled coil domains 1 |
Synonyms |
3632431M01Rik |
MMRRC Submission |
045713-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.367)
|
Stock # |
R7603 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 116020092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 453
(Y453*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
AlphaFold |
Q69ZZ6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032222
AA Change: Y453*
|
SMART Domains |
Protein: ENSMUSP00000032222 Gene: ENSMUSG00000030126 AA Change: Y453*
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 null
Transcript: ENSMUST00000088896
AA Change: Y413*
|
SMART Domains |
Protein: ENSMUSP00000086285 Gene: ENSMUSG00000030126 AA Change: Y413*
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 null
Transcript: ENSMUST00000172510
AA Change: Y93*
|
SMART Domains |
Protein: ENSMUSP00000133665 Gene: ENSMUSG00000030126 AA Change: Y93*
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 null
Transcript: ENSMUST00000173140
AA Change: Y93*
|
SMART Domains |
Protein: ENSMUSP00000134455 Gene: ENSMUSG00000030126 AA Change: Y93*
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
1 |
79 |
6.1e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173548
AA Change: Y234*
|
SMART Domains |
Protein: ENSMUSP00000145456 Gene: ENSMUSG00000030126 AA Change: Y234*
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204353
AA Change: Y238*
|
SMART Domains |
Protein: ENSMUSP00000144971 Gene: ENSMUSG00000030126 AA Change: Y238*
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,071,084 (GRCm39) |
K1536E |
possibly damaging |
Het |
Abhd16a |
T |
A |
17: 35,320,936 (GRCm39) |
|
probably null |
Het |
Actrt3 |
C |
T |
3: 30,652,696 (GRCm39) |
A133T |
probably benign |
Het |
Adcy10 |
C |
T |
1: 165,391,806 (GRCm39) |
R1329W |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,307,656 (GRCm39) |
M280V |
possibly damaging |
Het |
Canx |
A |
T |
11: 50,202,455 (GRCm39) |
D50E |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,338,696 (GRCm39) |
D470E |
probably damaging |
Het |
Cyp2c23 |
C |
T |
19: 44,003,369 (GRCm39) |
D269N |
probably damaging |
Het |
Ddah1 |
T |
C |
3: 145,464,774 (GRCm39) |
V53A |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Fastkd5 |
A |
G |
2: 130,456,961 (GRCm39) |
V543A |
possibly damaging |
Het |
Fggy |
G |
A |
4: 95,657,743 (GRCm39) |
G295R |
probably damaging |
Het |
Frs2 |
T |
C |
10: 116,909,968 (GRCm39) |
T465A |
probably benign |
Het |
Glipr1 |
A |
T |
10: 111,824,737 (GRCm39) |
N156K |
probably benign |
Het |
Gnpnat1 |
C |
T |
14: 45,622,074 (GRCm39) |
V40I |
probably benign |
Het |
H2-Q7 |
T |
C |
17: 35,658,939 (GRCm39) |
L130P |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,358,665 (GRCm39) |
L86* |
probably null |
Het |
Hspg2 |
T |
C |
4: 137,275,679 (GRCm39) |
L2778P |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,284,503 (GRCm39) |
I3487N |
possibly damaging |
Het |
Htra4 |
T |
G |
8: 25,515,716 (GRCm39) |
I441L |
probably benign |
Het |
Ints7 |
A |
T |
1: 191,328,336 (GRCm39) |
H203L |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,142,676 (GRCm39) |
T601A |
possibly damaging |
Het |
Lin7b |
T |
C |
7: 45,017,856 (GRCm39) |
|
probably benign |
Het |
Lmbr1l |
G |
A |
15: 98,806,572 (GRCm39) |
Q280* |
probably null |
Het |
Lpin3 |
G |
T |
2: 160,745,674 (GRCm39) |
|
probably null |
Het |
Map1lc3b |
A |
T |
8: 122,320,268 (GRCm39) |
H27L |
possibly damaging |
Het |
Mfsd14a |
C |
A |
3: 116,427,532 (GRCm39) |
V369F |
probably damaging |
Het |
Ndufa12 |
C |
T |
10: 94,056,641 (GRCm39) |
A123V |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,350,288 (GRCm39) |
F929L |
probably benign |
Het |
Nup210 |
A |
T |
6: 91,053,679 (GRCm39) |
D279E |
probably benign |
Het |
Or52m2 |
A |
G |
7: 102,264,145 (GRCm39) |
V17A |
probably benign |
Het |
Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
C |
3: 30,961,601 (GRCm39) |
I944V |
probably damaging |
Het |
Phf20 |
C |
T |
2: 156,144,771 (GRCm39) |
A793V |
probably benign |
Het |
Phf21a |
A |
C |
2: 92,187,352 (GRCm39) |
R540S |
probably benign |
Het |
Pogk |
A |
G |
1: 166,229,480 (GRCm39) |
C124R |
probably benign |
Het |
Rif1 |
C |
T |
2: 51,966,187 (GRCm39) |
S93L |
probably damaging |
Het |
Sanbr |
T |
C |
11: 23,516,191 (GRCm39) |
T709A |
probably benign |
Het |
Sele |
A |
G |
1: 163,877,084 (GRCm39) |
E120G |
probably damaging |
Het |
Slc4a1ap |
T |
C |
5: 31,703,539 (GRCm39) |
L49P |
|
Het |
Snap47 |
T |
C |
11: 59,319,373 (GRCm39) |
D255G |
probably damaging |
Het |
Tcstv3 |
T |
C |
13: 120,779,146 (GRCm39) |
V15A |
probably damaging |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Usp20 |
T |
A |
2: 30,901,486 (GRCm39) |
V459E |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,685,790 (GRCm39) |
L209Q |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,576,585 (GRCm39) |
S998P |
probably damaging |
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 |
|
R0654:Tmcc1
|
UTSW |
6 |
116,019,951 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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'- GATAATGCTCCTTGAGGGTCTCG -3'
(R):5'- GGATTTTCCAGCTTCTCCCAGG -3'
Sequencing Primer
(F):5'- CTCCTTGAGGGTCTCGAAGGAG -3'
(R):5'- CTACCCATTCAGCAGCAGGG -3'
|
Posted On |
2019-10-24 |