Incidental Mutation 'R3120:Tubgcp3'
| ID |
263175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp3
|
| Ensembl Gene |
ENSMUSG00000000759 |
| Gene Name |
tubulin, gamma complex component 3 |
| Synonyms |
GCP3, Spc98p |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12707626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 121
(A121V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000776
AA Change: A121V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: A121V
| 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 |
possibly damaging
Transcript: ENSMUST00000164774
AA Change: A121V
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
AA Change: A121V
| 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 |
unknown
Transcript: ENSMUST00000165321
AA Change: A3V
|
| SMART Domains |
Protein: ENSMUSP00000131051
Gene: ENSMUSG00000000759
AA Change: A3V
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGAGCTCAAGTTACCCG -3'
(R):5'- GCCTGATACTGTCAATTACGAAGG -3'
Sequencing Primer
(F):5'- GCTCAAGTTACCCGGGAAG -3'
(R):5'- CTGTCAATTACGAAGGTTCAGAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation