Incidental Mutation 'R7920:Tubgcp5'
ID |
648291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045967-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7920 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55466310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 621
(T621A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: T621A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: T621A
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 |
probably benign
Transcript: ENSMUST00000205796
AA Change: T621A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
T |
C |
14: 41,818,130 (GRCm39) |
S9P |
probably damaging |
Het |
AI661453 |
A |
T |
17: 47,779,331 (GRCm39) |
Q1019L |
unknown |
Het |
Aldh1a1 |
T |
A |
19: 20,595,301 (GRCm39) |
W77R |
probably damaging |
Het |
Cc2d2a |
T |
C |
5: 43,896,651 (GRCm39) |
I1516T |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,562,436 (GRCm39) |
I197F |
probably damaging |
Het |
Cfap119 |
A |
G |
7: 127,187,125 (GRCm39) |
M46T |
probably benign |
Het |
Cfb |
A |
G |
17: 35,079,867 (GRCm39) |
V176A |
probably benign |
Het |
Chordc1 |
A |
G |
9: 18,213,397 (GRCm39) |
K83E |
probably benign |
Het |
Cic |
G |
A |
7: 24,971,384 (GRCm39) |
V372M |
probably benign |
Het |
Coq2 |
T |
A |
5: 100,811,741 (GRCm39) |
|
probably benign |
Het |
Cradd |
A |
G |
10: 95,158,573 (GRCm39) |
L58P |
probably damaging |
Het |
Crim1 |
A |
T |
17: 78,610,493 (GRCm39) |
D316V |
probably damaging |
Het |
Cyb5rl |
C |
A |
4: 106,928,205 (GRCm39) |
L114I |
possibly damaging |
Het |
Cyp2c69 |
T |
G |
19: 39,866,247 (GRCm39) |
|
probably null |
Het |
Ddhd1 |
A |
G |
14: 45,894,927 (GRCm39) |
F181S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
Dmrt1 |
T |
C |
19: 25,483,383 (GRCm39) |
S56P |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,578,499 (GRCm39) |
E3086G |
possibly damaging |
Het |
Dnah5 |
A |
T |
15: 28,453,368 (GRCm39) |
M4380L |
probably benign |
Het |
Dph7 |
A |
T |
2: 24,861,624 (GRCm39) |
M346L |
probably benign |
Het |
Eef1ece2 |
A |
G |
16: 20,456,442 (GRCm39) |
E428G |
possibly damaging |
Het |
Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fcna |
T |
C |
2: 25,516,298 (GRCm39) |
K112E |
probably benign |
Het |
Fkbp5 |
A |
T |
17: 28,648,213 (GRCm39) |
N125K |
possibly damaging |
Het |
Foxo3 |
C |
T |
10: 42,073,765 (GRCm39) |
V251I |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,259,150 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,781,365 (GRCm39) |
E253G |
possibly damaging |
Het |
Gprc6a |
T |
A |
10: 51,491,026 (GRCm39) |
T908S |
probably benign |
Het |
Grin2c |
A |
T |
11: 115,144,970 (GRCm39) |
F560L |
probably benign |
Het |
Hao1 |
T |
A |
2: 134,390,172 (GRCm39) |
N56Y |
probably damaging |
Het |
Haus3 |
T |
C |
5: 34,325,046 (GRCm39) |
I204M |
probably benign |
Het |
Htr3b |
C |
A |
9: 48,848,456 (GRCm39) |
C263F |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,742,274 (GRCm39) |
C120S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,406,886 (GRCm39) |
S210T |
probably benign |
Het |
Inpp5d |
T |
G |
1: 87,633,671 (GRCm39) |
I699S |
probably damaging |
Het |
Kcng1 |
A |
G |
2: 168,104,904 (GRCm39) |
V314A |
probably benign |
Het |
Lcn11 |
G |
A |
2: 25,669,343 (GRCm39) |
V167M |
possibly damaging |
Het |
Lingo3 |
C |
A |
10: 80,670,382 (GRCm39) |
R516L |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,646,546 (GRCm39) |
V151A |
probably damaging |
Het |
Ly6g5b |
A |
C |
17: 35,333,578 (GRCm39) |
I133R |
probably damaging |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,564,773 (GRCm39) |
T562A |
probably benign |
Het |
Nlrc4 |
A |
G |
17: 74,734,114 (GRCm39) |
M933T |
probably benign |
Het |
Or13a25 |
A |
T |
7: 140,247,814 (GRCm39) |
S198C |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,345,759 (GRCm39) |
D2756E |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,359,432 (GRCm39) |
D445G |
probably damaging |
Het |
Ppp1r12c |
C |
T |
7: 4,486,354 (GRCm39) |
G605D |
probably benign |
Het |
Pygb |
T |
A |
2: 150,628,922 (GRCm39) |
N45K |
possibly damaging |
Het |
Scn4b |
A |
G |
9: 45,058,069 (GRCm39) |
T54A |
probably damaging |
Het |
Scrt1 |
T |
A |
15: 76,403,417 (GRCm39) |
H191L |
unknown |
Het |
Sdc3 |
A |
G |
4: 130,546,507 (GRCm39) |
M289V |
probably benign |
Het |
Shb |
C |
T |
4: 45,489,054 (GRCm39) |
|
probably null |
Het |
Slc1a5 |
A |
G |
7: 16,527,795 (GRCm39) |
T364A |
probably damaging |
Het |
Slc25a27 |
A |
G |
17: 43,960,564 (GRCm39) |
V218A |
probably benign |
Het |
Slc39a4 |
C |
T |
15: 76,498,285 (GRCm39) |
G384D |
probably damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Styxl2 |
T |
A |
1: 165,927,465 (GRCm39) |
N716Y |
possibly damaging |
Het |
Tmem67 |
A |
T |
4: 12,089,284 (GRCm39) |
|
probably null |
Het |
Tonsl |
C |
T |
15: 76,518,787 (GRCm39) |
R544H |
probably damaging |
Het |
Trex1 |
A |
G |
9: 108,887,157 (GRCm39) |
V278A |
unknown |
Het |
Ttn |
A |
T |
2: 76,625,501 (GRCm39) |
D15107E |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,465,515 (GRCm39) |
V1916A |
possibly damaging |
Het |
Zfp260 |
A |
T |
7: 29,805,017 (GRCm39) |
K306* |
probably null |
Het |
Zkscan7 |
A |
T |
9: 122,724,974 (GRCm39) |
T648S |
probably benign |
Het |
Zscan4c |
T |
A |
7: 10,743,699 (GRCm39) |
F433I |
possibly damaging |
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 |
|
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 |
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'- CACATGTGGGCGAGTGTC -3'
(R):5'- TCTACCTGGCAGAAACAACTACA -3'
Sequencing Primer
(F):5'- GCATTAGATCCTCTGCAGCTGAAG -3'
(R):5'- CAAAGCATTGCGTAGATATTGCCAG -3'
|
Posted On |
2020-09-15 |