Incidental Mutation 'IGL01943:Tubgcp3'
ID |
180933 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tubgcp3
|
Ensembl Gene |
ENSMUSG00000000759 |
Gene Name |
tubulin, gamma complex component 3 |
Synonyms |
GCP3, Spc98p |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
IGL01943
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12704301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 256
(F256S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
AlphaFold |
P58854 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000776
AA Change: F256S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000776 Gene: ENSMUSG00000000759 AA Change: F256S
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
171 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
251 |
761 |
9.5e-124 |
PFAM |
coiled coil region
|
787 |
814 |
N/A |
INTRINSIC |
low complexity region
|
821 |
827 |
N/A |
INTRINSIC |
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164774
AA Change: F256S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127741 Gene: ENSMUSG00000000759 AA Change: F256S
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
171 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
251 |
361 |
3.5e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164861
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164971
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165321
|
SMART Domains |
Protein: ENSMUSP00000131051 Gene: ENSMUSG00000000759
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167547
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172056
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
A |
G |
17: 35,315,459 (GRCm39) |
K169E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,410,988 (GRCm39) |
V167A |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,499,423 (GRCm39) |
R200H |
probably damaging |
Het |
Cblb |
G |
A |
16: 51,959,996 (GRCm39) |
|
probably null |
Het |
Cdc37 |
T |
C |
9: 21,054,409 (GRCm39) |
E72G |
probably benign |
Het |
Chek2 |
T |
A |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,554,957 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,813,084 (GRCm39) |
|
probably null |
Het |
Ecpas |
A |
G |
4: 58,849,937 (GRCm39) |
F429L |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,794,575 (GRCm39) |
R165H |
probably benign |
Het |
Gm2663 |
C |
T |
6: 40,973,010 (GRCm39) |
G199D |
probably damaging |
Het |
Gm8108 |
T |
C |
14: 4,127,217 (GRCm38) |
S134P |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,299,362 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
A |
15: 101,797,480 (GRCm39) |
D293V |
probably null |
Het |
Lifr |
T |
A |
15: 7,217,630 (GRCm39) |
C853S |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,234 (GRCm39) |
I2727F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,714,854 (GRCm39) |
K1606R |
possibly damaging |
Het |
Noxred1 |
G |
T |
12: 87,269,955 (GRCm39) |
Q259K |
probably benign |
Het |
Obox3 |
C |
T |
7: 15,360,777 (GRCm39) |
E121K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,145,944 (GRCm39) |
R18H |
probably benign |
Het |
Or1j19 |
T |
C |
2: 36,677,095 (GRCm39) |
I186T |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,015 (GRCm39) |
C112* |
probably null |
Het |
Or5b24 |
T |
C |
19: 12,913,038 (GRCm39) |
L312S |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,488,611 (GRCm39) |
V62E |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,550,089 (GRCm39) |
F245L |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,197,316 (GRCm39) |
Q86R |
probably null |
Het |
Polq |
T |
A |
16: 36,881,805 (GRCm39) |
I1044K |
possibly damaging |
Het |
Pomgnt2 |
G |
T |
9: 121,811,536 (GRCm39) |
T415N |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,983 (GRCm39) |
|
probably benign |
Het |
Prol1 |
T |
A |
5: 88,475,820 (GRCm39) |
M70K |
probably benign |
Het |
Ptpn22 |
T |
A |
3: 103,793,652 (GRCm39) |
V601E |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,709 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
A |
G |
6: 141,622,012 (GRCm39) |
D489G |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,360,148 (GRCm39) |
|
probably benign |
Het |
Stat4 |
C |
T |
1: 52,136,014 (GRCm39) |
T441I |
possibly damaging |
Het |
Tle1 |
A |
T |
4: 72,040,639 (GRCm39) |
V647E |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,811,896 (GRCm39) |
Y814* |
probably null |
Het |
Uqcrb |
A |
T |
13: 67,050,827 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
T |
13: 22,580,097 (GRCm39) |
E300V |
possibly damaging |
Het |
Zfp324 |
C |
T |
7: 12,702,713 (GRCm39) |
|
probably benign |
Het |
Zxdc |
T |
C |
6: 90,349,520 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tubgcp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Tubgcp3
|
APN |
8 |
12,671,809 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00583:Tubgcp3
|
APN |
8 |
12,671,906 (GRCm39) |
nonsense |
probably null |
|
IGL01289:Tubgcp3
|
APN |
8 |
12,689,625 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01578:Tubgcp3
|
APN |
8 |
12,711,297 (GRCm39) |
splice site |
probably benign |
|
IGL01716:Tubgcp3
|
APN |
8 |
12,691,094 (GRCm39) |
splice site |
probably benign |
|
IGL02020:Tubgcp3
|
APN |
8 |
12,687,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02345:Tubgcp3
|
APN |
8 |
12,675,056 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Tubgcp3
|
APN |
8 |
12,689,595 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02644:Tubgcp3
|
APN |
8 |
12,698,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Tubgcp3
|
APN |
8 |
12,682,300 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:Tubgcp3
|
APN |
8 |
12,699,797 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03287:Tubgcp3
|
APN |
8 |
12,689,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
Tinky_winky
|
UTSW |
8 |
12,700,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0145:Tubgcp3
|
UTSW |
8 |
12,707,561 (GRCm39) |
missense |
probably benign |
0.01 |
R0379:Tubgcp3
|
UTSW |
8 |
12,691,116 (GRCm39) |
missense |
probably damaging |
0.97 |
R0558:Tubgcp3
|
UTSW |
8 |
12,703,462 (GRCm39) |
missense |
probably benign |
0.00 |
R1490:Tubgcp3
|
UTSW |
8 |
12,689,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1709:Tubgcp3
|
UTSW |
8 |
12,689,532 (GRCm39) |
nonsense |
probably null |
|
R1768:Tubgcp3
|
UTSW |
8 |
12,699,686 (GRCm39) |
unclassified |
probably benign |
|
R1921:Tubgcp3
|
UTSW |
8 |
12,671,932 (GRCm39) |
nonsense |
probably null |
|
R1928:Tubgcp3
|
UTSW |
8 |
12,713,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2161:Tubgcp3
|
UTSW |
8 |
12,682,292 (GRCm39) |
missense |
probably benign |
0.22 |
R3120:Tubgcp3
|
UTSW |
8 |
12,707,626 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3434:Tubgcp3
|
UTSW |
8 |
12,708,381 (GRCm39) |
splice site |
probably null |
|
R4011:Tubgcp3
|
UTSW |
8 |
12,689,634 (GRCm39) |
nonsense |
probably null |
|
R4162:Tubgcp3
|
UTSW |
8 |
12,689,547 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4300:Tubgcp3
|
UTSW |
8 |
12,707,600 (GRCm39) |
missense |
probably damaging |
0.99 |
R4350:Tubgcp3
|
UTSW |
8 |
12,691,117 (GRCm39) |
missense |
probably benign |
0.19 |
R4529:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
R4530:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
R4531:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
R4676:Tubgcp3
|
UTSW |
8 |
12,700,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Tubgcp3
|
UTSW |
8 |
12,707,654 (GRCm39) |
missense |
probably benign |
0.03 |
R4828:Tubgcp3
|
UTSW |
8 |
12,721,987 (GRCm39) |
missense |
probably benign |
|
R4860:Tubgcp3
|
UTSW |
8 |
12,699,722 (GRCm39) |
missense |
probably benign |
0.03 |
R4860:Tubgcp3
|
UTSW |
8 |
12,699,722 (GRCm39) |
missense |
probably benign |
0.03 |
R5610:Tubgcp3
|
UTSW |
8 |
12,689,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Tubgcp3
|
UTSW |
8 |
12,674,888 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5650:Tubgcp3
|
UTSW |
8 |
12,698,670 (GRCm39) |
missense |
probably damaging |
0.98 |
R5775:Tubgcp3
|
UTSW |
8 |
12,675,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Tubgcp3
|
UTSW |
8 |
12,699,835 (GRCm39) |
splice site |
probably null |
|
R6314:Tubgcp3
|
UTSW |
8 |
12,698,625 (GRCm39) |
missense |
probably benign |
0.02 |
R6970:Tubgcp3
|
UTSW |
8 |
12,687,000 (GRCm39) |
missense |
probably damaging |
0.98 |
R7173:Tubgcp3
|
UTSW |
8 |
12,689,259 (GRCm39) |
splice site |
probably null |
|
R7408:Tubgcp3
|
UTSW |
8 |
12,711,359 (GRCm39) |
nonsense |
probably null |
|
R7502:Tubgcp3
|
UTSW |
8 |
12,691,207 (GRCm39) |
missense |
probably damaging |
0.99 |
R7701:Tubgcp3
|
UTSW |
8 |
12,705,974 (GRCm39) |
missense |
probably benign |
|
R7739:Tubgcp3
|
UTSW |
8 |
12,707,561 (GRCm39) |
missense |
probably benign |
0.01 |
R8169:Tubgcp3
|
UTSW |
8 |
12,666,099 (GRCm39) |
missense |
probably benign |
|
R8327:Tubgcp3
|
UTSW |
8 |
12,704,343 (GRCm39) |
missense |
probably benign |
0.11 |
R8723:Tubgcp3
|
UTSW |
8 |
12,671,899 (GRCm39) |
missense |
probably damaging |
0.96 |
R9212:Tubgcp3
|
UTSW |
8 |
12,691,200 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9393:Tubgcp3
|
UTSW |
8 |
12,703,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R9413:Tubgcp3
|
UTSW |
8 |
12,674,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R9650:Tubgcp3
|
UTSW |
8 |
12,705,974 (GRCm39) |
missense |
probably benign |
|
R9739:Tubgcp3
|
UTSW |
8 |
12,699,744 (GRCm39) |
missense |
probably benign |
0.06 |
R9748:Tubgcp3
|
UTSW |
8 |
12,699,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |