Incidental Mutation 'R1746:Tubgcp5'
ID |
193980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
039778-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R1746 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55458285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 399
(V399M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: V399M
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: V399M
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
273 |
942 |
1.2e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205796
AA Change: V399M
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Meta Mutation Damage Score |
0.0647 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
T |
A |
13: 70,927,717 (GRCm39) |
|
probably null |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Aknad1 |
A |
G |
3: 108,659,099 (GRCm39) |
T38A |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,865,910 (GRCm39) |
E902G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,635,588 (GRCm39) |
S227P |
possibly damaging |
Het |
Atp2c2 |
C |
T |
8: 120,461,182 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
T |
C |
15: 85,260,864 (GRCm39) |
V203A |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,737,326 (GRCm39) |
E1468D |
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
Col4a2 |
G |
A |
8: 11,496,020 (GRCm39) |
G1547D |
probably benign |
Het |
Cul1 |
A |
G |
6: 47,485,179 (GRCm39) |
E270G |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dmgdh |
C |
A |
13: 93,888,933 (GRCm39) |
T857K |
probably benign |
Het |
Ednra |
T |
G |
8: 78,398,211 (GRCm39) |
T279P |
probably benign |
Het |
Erbin |
A |
G |
13: 103,987,339 (GRCm39) |
I407T |
probably damaging |
Het |
Fggy |
A |
G |
4: 95,814,965 (GRCm39) |
Y440C |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,747,566 (GRCm39) |
N635Y |
possibly damaging |
Het |
Fnbp1l |
A |
G |
3: 122,350,140 (GRCm39) |
I357T |
probably benign |
Het |
Gulp1 |
A |
G |
1: 44,793,513 (GRCm39) |
H58R |
possibly damaging |
Het |
Hid1 |
A |
T |
11: 115,245,464 (GRCm39) |
V446E |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,561 (GRCm39) |
S1002P |
possibly damaging |
Het |
Klri1 |
A |
G |
6: 129,675,118 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
C |
15: 98,762,259 (GRCm39) |
L409R |
probably damaging |
Het |
Ltn1 |
A |
C |
16: 87,208,669 (GRCm39) |
S810A |
possibly damaging |
Het |
Mysm1 |
G |
A |
4: 94,836,648 (GRCm39) |
Q721* |
probably null |
Het |
Nae1 |
A |
G |
8: 105,254,017 (GRCm39) |
V105A |
possibly damaging |
Het |
Nagpa |
C |
T |
16: 5,021,503 (GRCm39) |
V83M |
probably damaging |
Het |
Nrg2 |
G |
A |
18: 36,154,975 (GRCm39) |
T503M |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,789 (GRCm39) |
M150V |
possibly damaging |
Het |
Or5p52 |
C |
A |
7: 107,502,093 (GRCm39) |
H56Q |
probably benign |
Het |
Or8g28 |
A |
G |
9: 39,169,498 (GRCm39) |
S157P |
probably damaging |
Het |
Papola |
T |
A |
12: 105,773,468 (GRCm39) |
D162E |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,680,041 (GRCm39) |
|
probably null |
Het |
Ppp1r16b |
T |
A |
2: 158,588,585 (GRCm39) |
|
probably null |
Het |
Ptprq |
T |
A |
10: 107,474,691 (GRCm39) |
E1338V |
probably damaging |
Het |
Puf60 |
G |
A |
15: 75,942,633 (GRCm39) |
H437Y |
probably benign |
Het |
Qsox2 |
C |
T |
2: 26,110,650 (GRCm39) |
V189I |
probably benign |
Het |
Rad51ap2 |
A |
T |
12: 11,507,776 (GRCm39) |
D566V |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,333,237 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
C |
T |
10: 38,697,049 (GRCm39) |
C184Y |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
Scara5 |
A |
C |
14: 65,968,539 (GRCm39) |
M271L |
probably benign |
Het |
Sel1l2 |
A |
G |
2: 140,127,157 (GRCm39) |
L118P |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,439,416 (GRCm39) |
|
probably benign |
Het |
Siglech |
T |
A |
7: 55,418,252 (GRCm39) |
H73Q |
probably benign |
Het |
Sim1 |
A |
G |
10: 50,860,205 (GRCm39) |
D689G |
probably benign |
Het |
Skp2 |
T |
C |
15: 9,139,530 (GRCm39) |
E55G |
possibly damaging |
Het |
Slc1a1 |
T |
A |
19: 28,871,869 (GRCm39) |
V114E |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,738,916 (GRCm39) |
G614D |
probably benign |
Het |
Sptbn2 |
C |
T |
19: 4,795,992 (GRCm39) |
Q1724* |
probably null |
Het |
Tet3 |
T |
C |
6: 83,345,050 (GRCm39) |
T1796A |
probably damaging |
Het |
Tmem117 |
A |
C |
15: 94,829,714 (GRCm39) |
D183A |
possibly damaging |
Het |
Trmt44 |
A |
G |
5: 35,721,403 (GRCm39) |
S587P |
probably benign |
Het |
Ttn |
G |
T |
2: 76,619,166 (GRCm39) |
|
probably benign |
Het |
Txndc2 |
T |
A |
17: 65,945,130 (GRCm39) |
D349V |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,250,915 (GRCm39) |
N1194I |
probably benign |
Het |
Vmn1r178 |
A |
T |
7: 23,593,329 (GRCm39) |
I53L |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Tubgcp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00969:Tubgcp5
|
APN |
7 |
55,456,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01291:Tubgcp5
|
APN |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01343:Tubgcp5
|
APN |
7 |
55,445,779 (GRCm39) |
splice site |
probably benign |
|
IGL01597:Tubgcp5
|
APN |
7 |
55,456,580 (GRCm39) |
splice site |
probably benign |
|
IGL01688:Tubgcp5
|
APN |
7 |
55,464,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01843:Tubgcp5
|
APN |
7 |
55,449,221 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01950:Tubgcp5
|
APN |
7 |
55,455,836 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01957:Tubgcp5
|
APN |
7 |
55,468,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02902:Tubgcp5
|
APN |
7 |
55,456,355 (GRCm39) |
nonsense |
probably null |
|
IGL03105:Tubgcp5
|
APN |
7 |
55,475,329 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:Tubgcp5
|
UTSW |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0078:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Tubgcp5
|
UTSW |
7 |
55,464,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R0362:Tubgcp5
|
UTSW |
7 |
55,450,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
R0488:Tubgcp5
|
UTSW |
7 |
55,479,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R0853:Tubgcp5
|
UTSW |
7 |
55,464,599 (GRCm39) |
splice site |
probably benign |
|
R0885:Tubgcp5
|
UTSW |
7 |
55,455,803 (GRCm39) |
nonsense |
probably null |
|
R1483:Tubgcp5
|
UTSW |
7 |
55,475,455 (GRCm39) |
critical splice donor site |
probably null |
|
R1766:Tubgcp5
|
UTSW |
7 |
55,464,768 (GRCm39) |
missense |
probably benign |
0.15 |
R2148:Tubgcp5
|
UTSW |
7 |
55,449,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Tubgcp5
|
UTSW |
7 |
55,480,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R3766:Tubgcp5
|
UTSW |
7 |
55,480,614 (GRCm39) |
missense |
probably damaging |
0.98 |
R4154:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
R4838:Tubgcp5
|
UTSW |
7 |
55,443,933 (GRCm39) |
unclassified |
probably benign |
|
R4948:Tubgcp5
|
UTSW |
7 |
55,455,871 (GRCm39) |
missense |
probably benign |
0.00 |
R5110:Tubgcp5
|
UTSW |
7 |
55,458,385 (GRCm39) |
missense |
probably damaging |
0.96 |
R5347:Tubgcp5
|
UTSW |
7 |
55,473,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5574:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
R5758:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5957:Tubgcp5
|
UTSW |
7 |
55,464,710 (GRCm39) |
missense |
probably benign |
0.03 |
R6014:Tubgcp5
|
UTSW |
7 |
55,473,357 (GRCm39) |
missense |
probably benign |
|
R6141:Tubgcp5
|
UTSW |
7 |
55,456,526 (GRCm39) |
missense |
probably benign |
0.30 |
R6289:Tubgcp5
|
UTSW |
7 |
55,445,671 (GRCm39) |
missense |
probably benign |
0.05 |
R6511:Tubgcp5
|
UTSW |
7 |
55,467,140 (GRCm39) |
nonsense |
probably null |
|
R6563:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6574:Tubgcp5
|
UTSW |
7 |
55,473,331 (GRCm39) |
missense |
probably benign |
|
R6596:Tubgcp5
|
UTSW |
7 |
55,456,382 (GRCm39) |
missense |
probably benign |
0.38 |
R7016:Tubgcp5
|
UTSW |
7 |
55,443,977 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7038:Tubgcp5
|
UTSW |
7 |
55,455,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R7075:Tubgcp5
|
UTSW |
7 |
55,479,155 (GRCm39) |
missense |
probably benign |
0.04 |
R7083:Tubgcp5
|
UTSW |
7 |
55,450,443 (GRCm39) |
nonsense |
probably null |
|
R7213:Tubgcp5
|
UTSW |
7 |
55,455,860 (GRCm39) |
missense |
probably damaging |
0.97 |
R7284:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
R7600:Tubgcp5
|
UTSW |
7 |
55,458,261 (GRCm39) |
missense |
probably benign |
|
R7813:Tubgcp5
|
UTSW |
7 |
55,450,444 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7920:Tubgcp5
|
UTSW |
7 |
55,466,310 (GRCm39) |
missense |
probably benign |
0.00 |
R7948:Tubgcp5
|
UTSW |
7 |
55,443,996 (GRCm39) |
missense |
probably benign |
0.01 |
R8438:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8499:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9087:Tubgcp5
|
UTSW |
7 |
55,467,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9211:Tubgcp5
|
UTSW |
7 |
55,456,331 (GRCm39) |
missense |
probably benign |
0.05 |
R9269:Tubgcp5
|
UTSW |
7 |
55,445,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9329:Tubgcp5
|
UTSW |
7 |
55,479,181 (GRCm39) |
critical splice donor site |
probably null |
|
R9355:Tubgcp5
|
UTSW |
7 |
55,467,177 (GRCm39) |
critical splice donor site |
probably null |
|
R9498:Tubgcp5
|
UTSW |
7 |
55,463,233 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9687:Tubgcp5
|
UTSW |
7 |
55,475,327 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Tubgcp5
|
UTSW |
7 |
55,464,849 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTGTCAGTGCCATCTGAGAAC -3'
(R):5'- GGCTTCGCCAACATTGTCATATTCAAG -3'
Sequencing Primer
(F):5'- aggcatccatacaggcaaac -3'
(R):5'- GCCAACATTGTCATATTCAAGAATGG -3'
|
Posted On |
2014-05-23 |