Incidental Mutation 'R6563:Tubgcp5'
| ID |
522543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp5
|
| Ensembl Gene |
ENSMUSG00000033790 |
| Gene Name |
tubulin, gamma complex associated protein 5 |
| Synonyms |
B130010C12Rik, GCP5 |
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55794154-55831677 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55825661 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 932
(R932G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
| AlphaFold |
Q8BKN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032627
AA Change: R932G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: R932G
| 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 |
possibly damaging
Transcript: ENSMUST00000205796
AA Change: R869G
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
A |
T |
2: 113,833,902 (GRCm38) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,268,460 (GRCm38) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,371,912 (GRCm38) |
W174R |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,492,086 (GRCm38) |
H259L |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,544,380 (GRCm38) |
H493L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,312,726 (GRCm38) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,856,253 (GRCm38) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm38) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,085,264 (GRCm38) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,623,778 (GRCm38) |
D523G |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,830,952 (GRCm38) |
V295A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,680,396 (GRCm38) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,288,407 (GRCm38) |
N696I |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,742,629 (GRCm38) |
Y96C |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,862,923 (GRCm38) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,302,863 (GRCm38) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,537,766 (GRCm38) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,486,395 (GRCm38) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,309,063 (GRCm38) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,995,467 (GRCm38) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,825,116 (GRCm38) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,517,146 (GRCm38) |
N230Y |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 79,035,217 (GRCm38) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 31,993,786 (GRCm38) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,705,765 (GRCm38) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 29,095,492 (GRCm38) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,205,943 (GRCm38) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,636,469 (GRCm38) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,526,036 (GRCm38) |
E82G |
possibly damaging |
Het |
| Spring1 |
T |
C |
5: 118,258,982 (GRCm38) |
V92A |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,534,774 (GRCm38) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,929,087 (GRCm38) |
E336G |
probably benign |
Het |
| Terf2ip |
G |
T |
8: 112,018,202 (GRCm38) |
V384F |
probably damaging |
Het |
| Tnn |
T |
A |
1: 160,088,398 (GRCm38) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,777,159 (GRCm38) |
E1263G |
possibly damaging |
Het |
| Utp25 |
C |
A |
1: 193,118,390 (GRCm38) |
R374L |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,808,605 (GRCm38) |
I199T |
possibly damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,502,501 (GRCm38) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,804,178 (GRCm38) |
N448Y |
possibly damaging |
Het |
|
| Other mutations in Tubgcp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Tubgcp5
|
APN |
7 |
55,806,595 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01291:Tubgcp5
|
APN |
7 |
55,808,529 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL01343:Tubgcp5
|
APN |
7 |
55,796,031 (GRCm38) |
splice site |
probably benign |
|
|
IGL01597:Tubgcp5
|
APN |
7 |
55,806,832 (GRCm38) |
splice site |
probably benign |
|
|
IGL01688:Tubgcp5
|
APN |
7 |
55,815,018 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL01843:Tubgcp5
|
APN |
7 |
55,799,473 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01950:Tubgcp5
|
APN |
7 |
55,806,088 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01957:Tubgcp5
|
APN |
7 |
55,818,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02902:Tubgcp5
|
APN |
7 |
55,806,607 (GRCm38) |
nonsense |
probably null |
|
|
IGL03105:Tubgcp5
|
APN |
7 |
55,825,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU05:Tubgcp5
|
UTSW |
7 |
55,808,529 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0078:Tubgcp5
|
UTSW |
7 |
55,818,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0322:Tubgcp5
|
UTSW |
7 |
55,814,978 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0362:Tubgcp5
|
UTSW |
7 |
55,800,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0449:Tubgcp5
|
UTSW |
7 |
55,823,567 (GRCm38) |
missense |
probably benign |
|
|
R0488:Tubgcp5
|
UTSW |
7 |
55,829,338 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0853:Tubgcp5
|
UTSW |
7 |
55,814,851 (GRCm38) |
splice site |
probably benign |
|
|
R0885:Tubgcp5
|
UTSW |
7 |
55,806,055 (GRCm38) |
nonsense |
probably null |
|
|
R1483:Tubgcp5
|
UTSW |
7 |
55,825,707 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1746:Tubgcp5
|
UTSW |
7 |
55,808,537 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1766:Tubgcp5
|
UTSW |
7 |
55,815,020 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2148:Tubgcp5
|
UTSW |
7 |
55,799,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2229:Tubgcp5
|
UTSW |
7 |
55,830,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3766:Tubgcp5
|
UTSW |
7 |
55,830,866 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4154:Tubgcp5
|
UTSW |
7 |
55,805,329 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4838:Tubgcp5
|
UTSW |
7 |
55,794,185 (GRCm38) |
unclassified |
probably benign |
|
|
R4948:Tubgcp5
|
UTSW |
7 |
55,806,123 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5110:Tubgcp5
|
UTSW |
7 |
55,808,637 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5347:Tubgcp5
|
UTSW |
7 |
55,823,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5417:Tubgcp5
|
UTSW |
7 |
55,825,661 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5574:Tubgcp5
|
UTSW |
7 |
55,805,329 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5758:Tubgcp5
|
UTSW |
7 |
55,818,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5957:Tubgcp5
|
UTSW |
7 |
55,814,962 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6014:Tubgcp5
|
UTSW |
7 |
55,823,609 (GRCm38) |
missense |
probably benign |
|
|
R6141:Tubgcp5
|
UTSW |
7 |
55,806,778 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6289:Tubgcp5
|
UTSW |
7 |
55,795,923 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6511:Tubgcp5
|
UTSW |
7 |
55,817,392 (GRCm38) |
nonsense |
probably null |
|
|
R6574:Tubgcp5
|
UTSW |
7 |
55,823,583 (GRCm38) |
missense |
probably benign |
|
|
R6596:Tubgcp5
|
UTSW |
7 |
55,806,634 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7016:Tubgcp5
|
UTSW |
7 |
55,794,229 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7038:Tubgcp5
|
UTSW |
7 |
55,805,366 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7075:Tubgcp5
|
UTSW |
7 |
55,829,407 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7083:Tubgcp5
|
UTSW |
7 |
55,800,695 (GRCm38) |
nonsense |
probably null |
|
|
R7213:Tubgcp5
|
UTSW |
7 |
55,806,112 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7284:Tubgcp5
|
UTSW |
7 |
55,823,567 (GRCm38) |
missense |
probably benign |
|
|
R7600:Tubgcp5
|
UTSW |
7 |
55,808,513 (GRCm38) |
missense |
probably benign |
|
|
R7813:Tubgcp5
|
UTSW |
7 |
55,800,696 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7920:Tubgcp5
|
UTSW |
7 |
55,816,562 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7948:Tubgcp5
|
UTSW |
7 |
55,794,248 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8438:Tubgcp5
|
UTSW |
7 |
55,804,615 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8499:Tubgcp5
|
UTSW |
7 |
55,804,615 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9087:Tubgcp5
|
UTSW |
7 |
55,817,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9211:Tubgcp5
|
UTSW |
7 |
55,806,583 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9269:Tubgcp5
|
UTSW |
7 |
55,795,945 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9329:Tubgcp5
|
UTSW |
7 |
55,829,433 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9355:Tubgcp5
|
UTSW |
7 |
55,817,429 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9498:Tubgcp5
|
UTSW |
7 |
55,813,485 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9687:Tubgcp5
|
UTSW |
7 |
55,825,579 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1088:Tubgcp5
|
UTSW |
7 |
55,815,101 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTTGCACAGACCTAGG -3'
(R):5'- GGGGCACACATTTATAACCCCATC -3'
Sequencing Primer
(F):5'- GGAGGCAGAAACAAGAGGATCCTAG -3'
(R):5'- ATAACCCCATCTAACCTAGTTTTTCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation