Incidental Mutation 'IGL03240:Tubgcp3'
| ID |
414261 |
| 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: 0.968)
|
| Stock # |
IGL03240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12699797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 352
(V352E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000776
AA Change: V352E
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: V352E
| 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 benign
Transcript: ENSMUST00000164774
|
| SMART Domains |
Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,365 (GRCm39) |
|
probably benign |
Het |
| AA467197 |
A |
G |
2: 122,481,182 (GRCm39) |
T57A |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,733,345 (GRCm39) |
D1852E |
probably damaging |
Het |
| Arg2 |
T |
A |
12: 79,178,605 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,845,107 (GRCm39) |
D1437G |
probably benign |
Het |
| AW551984 |
C |
A |
9: 39,500,418 (GRCm39) |
R780L |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,974,352 (GRCm39) |
K503* |
probably null |
Het |
| Bltp3a |
C |
A |
17: 28,112,227 (GRCm39) |
N1167K |
probably benign |
Het |
| Cdk2ap1 |
A |
T |
5: 124,484,207 (GRCm39) |
H96Q |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,010,859 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,585,665 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
G |
A |
15: 71,679,777 (GRCm39) |
P877S |
unknown |
Het |
| Col7a1 |
A |
T |
9: 108,797,441 (GRCm39) |
N1681Y |
probably null |
Het |
| Dennd1b |
T |
G |
1: 139,067,130 (GRCm39) |
S398A |
possibly damaging |
Het |
| Fgd2 |
C |
T |
17: 29,580,135 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,042,192 (GRCm39) |
S98G |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,656 (GRCm39) |
R353H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,783 (GRCm39) |
S857P |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,400,732 (GRCm39) |
R43* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,570,692 (GRCm39) |
H249L |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,569,076 (GRCm39) |
L501P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,022,281 (GRCm39) |
S495P |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,732,271 (GRCm39) |
D99G |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,428,394 (GRCm39) |
S333C |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 152,999,871 (GRCm39) |
I1163V |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,866,065 (GRCm39) |
I377F |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,842,530 (GRCm39) |
I268N |
probably damaging |
Het |
| Mmp21 |
G |
T |
7: 133,276,300 (GRCm39) |
H514Q |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,336,492 (GRCm39) |
T495A |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,701,688 (GRCm39) |
V21E |
probably damaging |
Het |
| Nap1l4 |
A |
G |
7: 143,091,982 (GRCm39) |
S49P |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,247,316 (GRCm39) |
S369F |
probably damaging |
Het |
| Niban2 |
A |
C |
2: 32,812,109 (GRCm39) |
Y397S |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,675 (GRCm39) |
K309* |
probably null |
Het |
| Pon2 |
A |
G |
6: 5,265,316 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
| Ptprk |
G |
T |
10: 28,368,957 (GRCm39) |
R643L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,368 (GRCm39) |
Y455F |
probably benign |
Het |
| Sec23b |
G |
A |
2: 144,408,679 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,256,465 (GRCm39) |
L751P |
probably damaging |
Het |
| Snx6 |
T |
A |
12: 54,830,228 (GRCm39) |
H77L |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,048,188 (GRCm39) |
C3472F |
possibly damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,396 (GRCm39) |
E50D |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
| Tulp2 |
T |
G |
7: 45,171,734 (GRCm39) |
F436C |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,282 (GRCm39) |
M58K |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,174,931 (GRCm39) |
V514A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,329 (GRCm39) |
V2982A |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,445,001 (GRCm39) |
T215A |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,135 (GRCm39) |
H64L |
probably damaging |
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 |
|
|
IGL01943:Tubgcp3
|
APN |
8 |
12,704,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation