Incidental Mutation 'R6596:Tubgcp5'
| ID |
525969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp5
|
| Ensembl Gene |
ENSMUSG00000033790 |
| Gene Name |
tubulin, gamma complex component 5 |
| Synonyms |
GCP5, B130010C12Rik |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55456382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 325
(F325I)
|
| 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: F325I
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: F325I
| 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: F325I
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
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 |
|
|
R1746:Tubgcp5
|
UTSW |
7 |
55,458,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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'- CCGTAATTCTGTAGTGTGTATGAACTG -3'
(R):5'- GAAGAAGATGACCTACCACTACTG -3'
Sequencing Primer
(F):5'- CTGTGTAGAAGGCAGCT -3'
(R):5'- ACACACTTCTCAATGTCTGTAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation