Incidental Mutation 'R8438:Tubgcp5'
ID |
654104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
067778-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R8438 (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 55454363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 219
(H219Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032627
AA Change: H219Q
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: H219Q
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 |
possibly damaging
Transcript: ENSMUST00000205796
AA Change: H219Q
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
AA Change: M197K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
C |
T |
9: 15,201,962 (GRCm39) |
|
probably null |
Het |
5730480H06Rik |
A |
T |
5: 48,534,425 (GRCm39) |
H95L |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,966,404 (GRCm39) |
Y410H |
probably damaging |
Het |
Abcb4 |
G |
A |
5: 8,996,120 (GRCm39) |
|
probably null |
Het |
Adam8 |
C |
T |
7: 139,565,249 (GRCm39) |
|
probably null |
Het |
Aldh1l1 |
C |
T |
6: 90,536,428 (GRCm39) |
P111L |
probably damaging |
Het |
Baz2b |
G |
T |
2: 59,747,828 (GRCm39) |
Y1278* |
probably null |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Casp9 |
C |
A |
4: 141,540,934 (GRCm39) |
T434N |
probably benign |
Het |
Cd19 |
C |
A |
7: 126,013,515 (GRCm39) |
M91I |
possibly damaging |
Het |
Celsr2 |
G |
A |
3: 108,301,139 (GRCm39) |
T2718M |
probably damaging |
Het |
Clptm1 |
G |
T |
7: 19,379,776 (GRCm39) |
D153E |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
Col1a2 |
G |
T |
6: 4,515,518 (GRCm39) |
G127V |
unknown |
Het |
Crybg3 |
A |
G |
16: 59,385,655 (GRCm39) |
S190P |
probably benign |
Het |
Ddrgk1 |
G |
A |
2: 130,505,302 (GRCm39) |
|
probably benign |
Het |
Dennd1a |
T |
C |
2: 37,746,150 (GRCm39) |
H402R |
probably benign |
Het |
Dgat2 |
T |
C |
7: 98,806,207 (GRCm39) |
Y330C |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,227,839 (GRCm39) |
C1354Y |
probably damaging |
Het |
Ecd |
T |
A |
14: 20,388,533 (GRCm39) |
I119L |
possibly damaging |
Het |
Entpd1 |
A |
G |
19: 40,725,224 (GRCm39) |
K437E |
possibly damaging |
Het |
Fcgbp |
C |
T |
7: 27,789,231 (GRCm39) |
A599V |
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,241,701 (GRCm39) |
S1999* |
probably null |
Het |
Hesx1 |
C |
T |
14: 26,723,460 (GRCm39) |
R97C |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hoxb3 |
A |
G |
11: 96,236,609 (GRCm39) |
N229S |
probably benign |
Het |
Itpk1 |
G |
A |
12: 102,572,418 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
C |
T |
6: 55,874,878 (GRCm39) |
S276L |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,289,153 (GRCm39) |
D549G |
probably benign |
Het |
Mef2c |
A |
G |
13: 83,804,336 (GRCm39) |
E312G |
probably damaging |
Het |
Morn5 |
A |
G |
2: 35,945,076 (GRCm39) |
K100R |
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,430,455 (GRCm39) |
D610E |
probably benign |
Het |
Obox6 |
G |
C |
7: 15,567,853 (GRCm39) |
A198G |
probably damaging |
Het |
Or2t43 |
A |
T |
11: 58,457,665 (GRCm39) |
S169T |
possibly damaging |
Het |
Or4a75 |
C |
T |
2: 89,448,054 (GRCm39) |
V161M |
possibly damaging |
Het |
Or4a80 |
A |
T |
2: 89,583,061 (GRCm39) |
M37K |
probably damaging |
Het |
Or6b13 |
C |
A |
7: 139,782,170 (GRCm39) |
C171F |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,825,232 (GRCm39) |
N741S |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,877,379 (GRCm39) |
N575D |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,179,115 (GRCm39) |
G967W |
probably damaging |
Het |
Ppp3cb |
C |
T |
14: 20,565,658 (GRCm39) |
M373I |
probably damaging |
Het |
Sec14l2 |
C |
A |
11: 4,059,202 (GRCm39) |
E156* |
probably null |
Het |
Srrt |
A |
T |
5: 137,301,262 (GRCm39) |
Y55N |
unknown |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Thada |
G |
A |
17: 84,743,057 (GRCm39) |
T789I |
probably damaging |
Het |
Top3b |
G |
T |
16: 16,709,364 (GRCm39) |
S684I |
probably benign |
Het |
Trpc4 |
A |
G |
3: 54,129,674 (GRCm39) |
I147V |
possibly damaging |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Vmn1r31 |
T |
A |
6: 58,449,646 (GRCm39) |
D73V |
|
Het |
Wasf3 |
A |
T |
5: 146,390,237 (GRCm39) |
Q127L |
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,760,054 (GRCm39) |
T182A |
possibly damaging |
Het |
Xpo7 |
C |
A |
14: 70,940,672 (GRCm39) |
R139S |
probably benign |
Het |
Zfp687 |
A |
T |
3: 94,915,433 (GRCm39) |
S1058T |
probably benign |
Het |
Zfp786 |
T |
C |
6: 47,796,934 (GRCm39) |
E668G |
probably damaging |
Het |
Zfp831 |
A |
T |
2: 174,486,796 (GRCm39) |
R490S |
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 |
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 |
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'- CAGACTACACTGTGGCCATG -3'
(R):5'- TTACCACCATGATGTTATGTGCAC -3'
Sequencing Primer
(F):5'- CTACACTGTGGCCATGGGAGAG -3'
(R):5'- ACCATGATGTTATGTGCACTCTTG -3'
|
Posted On |
2020-10-20 |