Incidental Mutation 'R4514:Tubgcp2'
| ID |
332799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp2
|
| Ensembl Gene |
ENSMUSG00000025474 |
| Gene Name |
tubulin, gamma complex component 2 |
| Synonyms |
1700022B05Rik |
| MMRRC Submission |
041588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R4514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139575984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 893
(P893L)
|
| 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: P893L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: P893L
| 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: P893L
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 |
0.0819 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
G |
8: 25,308,152 (GRCm39) |
T51P |
probably damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,006,745 (GRCm39) |
T155S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,404,339 (GRCm39) |
Q1334L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,968,518 (GRCm39) |
T1055M |
probably damaging |
Het |
| Cd3g |
C |
A |
9: 44,884,882 (GRCm39) |
A121S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,378,046 (GRCm39) |
I618T |
probably benign |
Het |
| Cp |
A |
G |
3: 20,042,177 (GRCm39) |
M982V |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,933,653 (GRCm39) |
S611T |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,997 (GRCm39) |
T168A |
unknown |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Defb34 |
A |
T |
8: 19,176,522 (GRCm39) |
D71V |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,623,573 (GRCm39) |
D3615E |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,666,709 (GRCm39) |
T167S |
probably damaging |
Het |
| F5 |
T |
A |
1: 163,979,566 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,265 (GRCm39) |
T559A |
possibly damaging |
Het |
| Ifit1 |
A |
T |
19: 34,625,913 (GRCm39) |
R350* |
probably null |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,216 (GRCm39) |
N79S |
possibly damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,202 (GRCm39) |
T235A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,251 (GRCm39) |
I1081V |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,627,819 (GRCm39) |
C55F |
probably damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,402 (GRCm39) |
T311A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mocos |
T |
A |
18: 24,816,269 (GRCm39) |
S615R |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,146,395 (GRCm39) |
V1456A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,648,200 (GRCm39) |
I1759V |
probably benign |
Het |
| Nat8f5 |
G |
A |
6: 85,794,405 (GRCm39) |
T185I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ncam2 |
T |
A |
16: 81,309,884 (GRCm39) |
M458K |
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,590,007 (GRCm39) |
S532G |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4p22 |
T |
C |
2: 88,317,709 (GRCm39) |
V211A |
probably benign |
Het |
| Or52h2 |
C |
T |
7: 103,838,598 (GRCm39) |
R272H |
probably benign |
Het |
| Pask |
T |
A |
1: 93,249,855 (GRCm39) |
Q515L |
probably benign |
Het |
| Poglut1 |
A |
T |
16: 38,369,778 (GRCm39) |
F35I |
probably benign |
Het |
| Ppp1ca |
T |
G |
19: 4,245,054 (GRCm39) |
I319S |
probably benign |
Het |
| Psg25 |
T |
A |
7: 18,263,533 (GRCm39) |
R97* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,441,709 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,992 (GRCm39) |
F292L |
probably benign |
Het |
| Tmco5 |
T |
A |
2: 116,710,795 (GRCm39) |
D38E |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,977 (GRCm39) |
I662T |
possibly damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAAAGCTTCTAAAAGGAAGTC -3'
(R):5'- CCCTGGTTGAACCTGTCACATG -3'
Sequencing Primer
(F):5'- AAGCTTCTAAAAGGAAGTCTAACATC -3'
(R):5'- CCTGTCACATGATTGGGAGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation