Incidental Mutation 'R5435:Tubgcp2'
ID |
428263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp2
|
Ensembl Gene |
ENSMUSG00000025474 |
Gene Name |
tubulin, gamma complex component 2 |
Synonyms |
1700022B05Rik |
MMRRC Submission |
043000-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5435 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 139575985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 893
(P893S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026547
(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 |
possibly damaging
Transcript: ENSMUST00000026547
AA Change: P893S
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026547 Gene: ENSMUSG00000025474 AA Change: P893S
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 benign
Transcript: ENSMUST00000211638
AA Change: P893S
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211186
|
Meta Mutation Damage Score |
0.0611 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,383,413 (GRCm39) |
F851L |
probably benign |
Het |
Abca17 |
C |
T |
17: 24,486,588 (GRCm39) |
V1480I |
possibly damaging |
Het |
Acsbg1 |
G |
T |
9: 54,523,153 (GRCm39) |
Y491* |
probably null |
Het |
Acsf3 |
T |
A |
8: 123,507,020 (GRCm39) |
N104K |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,585,612 (GRCm39) |
Y400H |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,147,468 (GRCm39) |
T524M |
probably damaging |
Het |
Aff1 |
G |
A |
5: 103,902,198 (GRCm39) |
|
probably benign |
Het |
Anxa9 |
T |
C |
3: 95,204,561 (GRCm39) |
Y321C |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,565,552 (GRCm39) |
Y329N |
probably damaging |
Het |
Aph1c |
A |
T |
9: 66,741,783 (GRCm39) |
I33N |
possibly damaging |
Het |
B3galnt2 |
A |
G |
13: 14,171,575 (GRCm39) |
E491G |
probably benign |
Het |
Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
Ccar2 |
A |
G |
14: 70,376,776 (GRCm39) |
L856P |
probably damaging |
Het |
Ccdc107 |
A |
T |
4: 43,493,519 (GRCm39) |
D30V |
probably damaging |
Het |
Ccdc116 |
G |
T |
16: 16,960,626 (GRCm39) |
H64N |
probably benign |
Het |
Ccl12 |
T |
C |
11: 81,994,001 (GRCm39) |
I86T |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,898,391 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
T |
A |
1: 82,431,728 (GRCm39) |
I1519F |
unknown |
Het |
Ddx19b |
T |
C |
8: 111,735,458 (GRCm39) |
Q416R |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,037,121 (GRCm39) |
M3374L |
probably benign |
Het |
Dnajc6 |
A |
T |
4: 101,463,807 (GRCm39) |
I119F |
probably damaging |
Het |
Ensa |
C |
A |
3: 95,529,769 (GRCm39) |
|
probably benign |
Het |
Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Foxf1 |
G |
A |
8: 121,811,231 (GRCm39) |
G32S |
probably damaging |
Het |
Gls2 |
G |
A |
10: 128,030,995 (GRCm39) |
|
probably benign |
Het |
Gm13599 |
T |
A |
2: 67,226,496 (GRCm39) |
|
noncoding transcript |
Het |
Gmnn |
A |
G |
13: 24,936,084 (GRCm39) |
S197P |
probably benign |
Het |
Guf1 |
A |
T |
5: 69,720,512 (GRCm39) |
H324L |
probably benign |
Het |
H2-Q6 |
A |
G |
17: 35,644,661 (GRCm39) |
D150G |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,832,791 (GRCm39) |
L152Q |
probably damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,797,682 (GRCm39) |
S13A |
probably benign |
Het |
Ighv5-4 |
A |
G |
12: 113,561,283 (GRCm39) |
F46L |
probably benign |
Het |
Kank1 |
T |
G |
19: 25,388,507 (GRCm39) |
S727A |
probably benign |
Het |
Kcnma1 |
A |
T |
14: 23,578,472 (GRCm39) |
Y201* |
probably null |
Het |
Lyst |
A |
T |
13: 13,951,649 (GRCm39) |
H3750L |
possibly damaging |
Het |
Mettl25 |
A |
G |
10: 105,615,447 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
G |
4: 81,201,724 (GRCm39) |
|
probably benign |
Het |
Myh9 |
C |
T |
15: 77,653,809 (GRCm39) |
V1280I |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,416,388 (GRCm39) |
T32S |
probably benign |
Het |
Nol7 |
C |
A |
13: 43,554,848 (GRCm39) |
H187Q |
possibly damaging |
Het |
Or5ak22 |
T |
A |
2: 85,230,814 (GRCm39) |
N21I |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,126,652 (GRCm39) |
D378G |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,113,770 (GRCm39) |
S694P |
probably damaging |
Het |
Pih1d1 |
T |
A |
7: 44,805,696 (GRCm39) |
|
probably null |
Het |
Pik3c2g |
T |
G |
6: 139,661,581 (GRCm39) |
|
probably null |
Het |
Prkar2a |
A |
G |
9: 108,617,682 (GRCm39) |
R247G |
probably damaging |
Het |
Psg26 |
A |
G |
7: 18,212,398 (GRCm39) |
I319T |
possibly damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rasa3 |
T |
C |
8: 13,681,811 (GRCm39) |
E46G |
possibly damaging |
Het |
Rbbp5 |
T |
A |
1: 132,422,013 (GRCm39) |
H304Q |
probably damaging |
Het |
Relch |
T |
A |
1: 105,668,975 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
A |
2: 66,103,878 (GRCm39) |
E1783V |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,835,603 (GRCm39) |
N151S |
probably benign |
Het |
Tbc1d32 |
C |
A |
10: 55,916,246 (GRCm39) |
A1191S |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,350,979 (GRCm39) |
R140S |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,220,958 (GRCm39) |
Y2565C |
probably benign |
Het |
Ttn |
A |
T |
2: 76,744,702 (GRCm39) |
V5449D |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,742,268 (GRCm39) |
F2325S |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,039,951 (GRCm39) |
D352G |
probably benign |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Ypel3 |
A |
G |
7: 126,374,960 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
A |
5: 137,402,024 (GRCm39) |
T4023S |
unknown |
Het |
Zfp735 |
T |
A |
11: 73,602,939 (GRCm39) |
C628S |
possibly 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 |
IGL02643:Tubgcp2
|
APN |
7 |
139,576,067 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAAAAGCTTCTAAAAGGAAGTC -3'
(R):5'- TGAACCTGTCACATGATTGGGAG -3'
Sequencing Primer
(F):5'- AAGCTTCTAAAAGGAAGTCTAACATC -3'
(R):5'- TGGATAACCATGGCAGATCCTGTG -3'
|
Posted On |
2016-09-01 |