Incidental Mutation 'R1483:Tubgcp5'
ID |
165697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
039536-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R1483 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 55475455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000032627]
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000205796]
[ENSMUST00000205796]
[ENSMUST00000205796]
[ENSMUST00000205796]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032627
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790
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 null
Transcript: ENSMUST00000032627
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790
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 null
Transcript: ENSMUST00000032627
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790
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: ENSMUST00000205311
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
A |
7: 133,531,754 (GRCm39) |
T494S |
probably benign |
Het |
Akap6 |
C |
T |
12: 52,842,870 (GRCm39) |
P73S |
probably damaging |
Het |
Amotl2 |
A |
T |
9: 102,608,096 (GRCm39) |
T763S |
probably benign |
Het |
Brd10 |
G |
A |
19: 29,696,745 (GRCm39) |
P916L |
possibly damaging |
Het |
Cdc5l |
A |
T |
17: 45,719,290 (GRCm39) |
V541D |
possibly damaging |
Het |
Chl1 |
A |
G |
6: 103,624,248 (GRCm39) |
Y52C |
probably damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,931,733 (GRCm39) |
E255G |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,243,155 (GRCm39) |
S126P |
probably benign |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Drc3 |
A |
G |
11: 60,279,715 (GRCm39) |
I427V |
probably benign |
Het |
Drg2 |
T |
C |
11: 60,350,353 (GRCm39) |
I104T |
probably damaging |
Het |
Dst |
C |
T |
1: 34,292,079 (GRCm39) |
A932V |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,757,164 (GRCm39) |
D880E |
unknown |
Het |
Elf1 |
T |
A |
14: 79,818,078 (GRCm39) |
D569E |
probably benign |
Het |
Esp6 |
T |
A |
17: 40,873,816 (GRCm39) |
M1K |
probably null |
Het |
Fer1l6 |
T |
C |
15: 58,509,819 (GRCm39) |
V1427A |
possibly damaging |
Het |
Gsta1 |
A |
T |
9: 78,149,775 (GRCm39) |
K196M |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,169 (GRCm39) |
I110F |
probably damaging |
Het |
H2-DMa |
T |
A |
17: 34,354,724 (GRCm39) |
V27E |
possibly damaging |
Het |
H2-T10 |
A |
T |
17: 36,432,038 (GRCm39) |
S2T |
probably benign |
Het |
Hadhb |
A |
G |
5: 30,374,492 (GRCm39) |
|
probably null |
Het |
Hoxa11 |
G |
T |
6: 52,220,436 (GRCm39) |
D282E |
probably damaging |
Het |
Ifit1bl1 |
A |
G |
19: 34,572,041 (GRCm39) |
Y139H |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,049,436 (GRCm39) |
V88A |
possibly damaging |
Het |
Knop1 |
C |
T |
7: 118,452,273 (GRCm39) |
A149T |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,404,770 (GRCm39) |
K597I |
probably damaging |
Het |
Med16 |
A |
T |
10: 79,738,934 (GRCm39) |
I284N |
possibly damaging |
Het |
Melk |
T |
A |
4: 44,308,937 (GRCm39) |
I98K |
probably damaging |
Het |
Mst1 |
G |
T |
9: 107,958,849 (GRCm39) |
G127V |
probably benign |
Het |
Nacad |
A |
G |
11: 6,552,217 (GRCm39) |
S325P |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,910,211 (GRCm39) |
P1328L |
probably benign |
Het |
Nek5 |
C |
T |
8: 22,586,806 (GRCm39) |
S335N |
probably benign |
Het |
Nif3l1 |
C |
A |
1: 58,486,885 (GRCm39) |
R24S |
probably benign |
Het |
Nlrp14 |
T |
G |
7: 106,789,329 (GRCm39) |
N39K |
possibly damaging |
Het |
Nup50 |
T |
A |
15: 84,823,928 (GRCm39) |
V427D |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,383,714 (GRCm39) |
P78L |
probably damaging |
Het |
Or5an9 |
T |
A |
19: 12,187,114 (GRCm39) |
Y61* |
probably null |
Het |
Pate8 |
G |
A |
9: 36,492,620 (GRCm39) |
S95L |
probably benign |
Het |
Pnkd |
A |
G |
1: 74,388,550 (GRCm39) |
Y242C |
probably benign |
Het |
Ppm1g |
T |
C |
5: 31,360,465 (GRCm39) |
D423G |
probably benign |
Het |
Pramel32 |
T |
A |
4: 88,547,071 (GRCm39) |
Q116L |
probably damaging |
Het |
Prkci |
A |
T |
3: 31,097,941 (GRCm39) |
N464Y |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,093,161 (GRCm39) |
V494M |
possibly damaging |
Het |
Rapgef4 |
T |
G |
2: 71,885,370 (GRCm39) |
|
probably null |
Het |
Rbak |
T |
C |
5: 143,160,099 (GRCm39) |
E318G |
probably damaging |
Het |
Rora |
A |
G |
9: 69,271,667 (GRCm39) |
D215G |
probably benign |
Het |
Rp1l1 |
C |
T |
14: 64,266,496 (GRCm39) |
T694I |
possibly damaging |
Het |
Scrib |
A |
G |
15: 75,929,771 (GRCm39) |
L1032P |
probably damaging |
Het |
Sectm1b |
G |
A |
11: 120,946,652 (GRCm39) |
T81M |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,942,518 (GRCm39) |
F97L |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,394 (GRCm39) |
Y221* |
probably null |
Het |
Spata31d1e |
A |
T |
13: 59,890,717 (GRCm39) |
S368T |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,498 (GRCm39) |
H850L |
probably benign |
Het |
Tex44 |
G |
T |
1: 86,354,908 (GRCm39) |
Q272H |
probably damaging |
Het |
Tgfbr2 |
A |
C |
9: 115,938,625 (GRCm39) |
S426A |
probably benign |
Het |
Tmem39b |
T |
C |
4: 129,570,456 (GRCm39) |
Y461C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,555,337 (GRCm39) |
D30556V |
probably damaging |
Het |
Vmn2r70 |
T |
C |
7: 85,208,375 (GRCm39) |
I701V |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,154,129 (GRCm39) |
L622Q |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,822,923 (GRCm39) |
H1347L |
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,234,863 (GRCm39) |
I540V |
probably benign |
Het |
Xylt2 |
A |
C |
11: 94,560,393 (GRCm39) |
M294R |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,298,499 (GRCm39) |
Y326* |
probably null |
Het |
Zim1 |
A |
G |
7: 6,685,124 (GRCm39) |
F109L |
probably benign |
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 |
|
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 |
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'- GTTCTGCCATTGTCTAGGGCTCAG -3'
(R):5'- TGGGGCACACATTTATAACCCCATC -3'
Sequencing Primer
(F):5'- cccagaacccacatacaaatcc -3'
(R):5'- ATAACCCCATCTAACCTAGTTTTTCC -3'
|
Posted On |
2014-03-28 |