Incidental Mutation 'R5625:Tubgcp3'
| ID |
441803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp3
|
| Ensembl Gene |
ENSMUSG00000000759 |
| Gene Name |
tubulin, gamma complex component 3 |
| Synonyms |
GCP3, Spc98p |
| MMRRC Submission |
043164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12674888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 744
(H744R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000776
AA Change: H744R
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: H744R
| 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 |
noncoding transcript
Transcript: ENSMUST00000164611
|
| 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: ENSMUST00000164971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168657
|
| Meta Mutation Damage Score |
0.2848 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
| Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
| Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
| Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
| Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
| Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
| Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
| Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
| Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
| Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
| Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
| Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
| Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
| Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
| Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
| Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
| Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACTTATGCAGCCCCGTGC -3'
(R):5'- GAGATGGTGCACTTCATCCAC -3'
Sequencing Primer
(F):5'- CGTGCCATTAACTGACTAAGACAATG -3'
(R):5'- CCAGATGCAGTACTACATCACCTTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation