Incidental Mutation 'IGL02643:Tubgcp2'
| ID |
301831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubgcp2
|
| Ensembl Gene |
ENSMUSG00000025474 |
| Gene Name |
tubulin, gamma complex component 2 |
| Synonyms |
1700022B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL02643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139576067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 865
(N865K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000026547]
[ENSMUST00000106069]
[ENSMUST00000148670]
[ENSMUST00000173209]
[ENSMUST00000211638]
[ENSMUST00000210224]
|
| AlphaFold |
Q921G8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026546
|
| SMART Domains |
Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
151 |
5.9e-35 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
371 |
1e-22 |
PFAM |
|
Pfam:Reprolysin_4
|
193 |
384 |
1.7e-16 |
PFAM |
|
Pfam:Reprolysin
|
195 |
394 |
2.7e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
214 |
384 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
218 |
339 |
4.9e-21 |
PFAM |
|
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
|
ACR
|
487 |
606 |
2.15e-35 |
SMART |
|
EGF
|
613 |
642 |
3.06e-1 |
SMART |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
812 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026547
AA Change: N865K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: N865K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
|
Pfam:Spc97_Spc98
|
220 |
738 |
8.6e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106069
|
| SMART Domains |
Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
28 |
152 |
4e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
194 |
372 |
9.6e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
385 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin
|
196 |
395 |
2.2e-73 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
385 |
2.9e-18 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
6.6e-21 |
PFAM |
|
DISIN
|
412 |
487 |
5.16e-36 |
SMART |
|
ACR
|
488 |
607 |
2.15e-35 |
SMART |
|
EGF
|
614 |
643 |
3.06e-1 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148670
|
| SMART Domains |
Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
151 |
1.8e-35 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
371 |
3.6e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
193 |
384 |
6e-17 |
PFAM |
|
Pfam:Reprolysin
|
195 |
394 |
8.2e-71 |
PFAM |
|
Pfam:Reprolysin_2
|
214 |
384 |
5.8e-17 |
PFAM |
|
Pfam:Reprolysin_3
|
218 |
339 |
1.7e-21 |
PFAM |
|
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
|
ACR
|
487 |
612 |
2.21e-32 |
SMART |
|
EGF
|
619 |
648 |
3.06e-1 |
SMART |
|
transmembrane domain
|
666 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173209
|
| SMART Domains |
Protein: ENSMUSP00000133673
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209930
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211638
AA Change: N865K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
G |
5: 121,769,633 (GRCm39) |
M608L |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
| Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
| Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Micu1 |
A |
G |
10: 59,675,558 (GRCm39) |
D380G |
probably damaging |
Het |
| Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
| Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
| Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
| Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
| Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
| Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
| Samd8 |
T |
A |
14: 21,843,212 (GRCm39) |
M447K |
probably damaging |
Het |
| Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,497 (GRCm39) |
V521M |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
| Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
| Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
| Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
probably damaging |
Het |
|
| Other mutations in Tubgcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Tubgcp2
|
APN |
7 |
139,610,935 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL00791:Tubgcp2
|
APN |
7 |
139,581,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02710:Tubgcp2
|
APN |
7 |
139,584,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL03352:Tubgcp2
|
APN |
7 |
139,580,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0189:Tubgcp2
|
UTSW |
7 |
139,581,518 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Tubgcp2
|
UTSW |
7 |
139,579,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Tubgcp2
|
UTSW |
7 |
139,612,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Tubgcp2
|
UTSW |
7 |
139,578,809 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1192:Tubgcp2
|
UTSW |
7 |
139,609,751 (GRCm39) |
missense |
probably benign |
|
|
R1528:Tubgcp2
|
UTSW |
7 |
139,613,696 (GRCm39) |
unclassified |
probably benign |
|
|
R1728:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
|
R1729:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
|
R1784:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
|
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Tubgcp2
|
UTSW |
7 |
139,586,066 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4514:Tubgcp2
|
UTSW |
7 |
139,575,984 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4545:Tubgcp2
|
UTSW |
7 |
139,575,984 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4774:Tubgcp2
|
UTSW |
7 |
139,576,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Tubgcp2
|
UTSW |
7 |
139,579,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Tubgcp2
|
UTSW |
7 |
139,587,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5435:Tubgcp2
|
UTSW |
7 |
139,575,985 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5531:Tubgcp2
|
UTSW |
7 |
139,584,937 (GRCm39) |
splice site |
probably null |
|
|
R5699:Tubgcp2
|
UTSW |
7 |
139,578,701 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5706:Tubgcp2
|
UTSW |
7 |
139,612,138 (GRCm39) |
nonsense |
probably null |
|
|
R6123:Tubgcp2
|
UTSW |
7 |
139,587,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Tubgcp2
|
UTSW |
7 |
139,580,949 (GRCm39) |
missense |
probably benign |
|
|
R7165:Tubgcp2
|
UTSW |
7 |
139,585,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7213:Tubgcp2
|
UTSW |
7 |
139,587,927 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7424:Tubgcp2
|
UTSW |
7 |
139,587,837 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7511:Tubgcp2
|
UTSW |
7 |
139,584,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7523:Tubgcp2
|
UTSW |
7 |
139,586,783 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7612:Tubgcp2
|
UTSW |
7 |
139,580,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Tubgcp2
|
UTSW |
7 |
139,587,893 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8220:Tubgcp2
|
UTSW |
7 |
139,586,053 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8481:Tubgcp2
|
UTSW |
7 |
139,613,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Tubgcp2
|
UTSW |
7 |
139,576,705 (GRCm39) |
missense |
probably benign |
|
|
R8886:Tubgcp2
|
UTSW |
7 |
139,584,882 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9222:Tubgcp2
|
UTSW |
7 |
139,587,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Tubgcp2
|
UTSW |
7 |
139,584,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9666:Tubgcp2
|
UTSW |
7 |
139,587,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0004:Tubgcp2
|
UTSW |
7 |
139,586,934 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation