Incidental Mutation 'R7951:Tubgcp2'
| ID |
649565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp2
|
| Ensembl Gene |
ENSMUSG00000025474 |
| Gene Name |
tubulin, gamma complex component 2 |
| Synonyms |
1700022B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139587893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 244
(R244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026547]
[ENSMUST00000210224]
[ENSMUST00000211638]
|
| AlphaFold |
Q921G8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026547
AA Change: R244L
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: R244L
| 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 |
unknown
Transcript: ENSMUST00000210224
AA Change: V191L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211638
AA Change: R244L
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
G |
A |
17: 85,004,957 (GRCm39) |
G575S |
probably damaging |
Het |
| Acacb |
G |
T |
5: 114,326,401 (GRCm39) |
A256S |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,238,947 (GRCm39) |
D757G |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,121,126 (GRCm39) |
V834A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,689 (GRCm39) |
S1096P |
probably damaging |
Het |
| Bmal2 |
T |
G |
6: 146,714,732 (GRCm39) |
L135R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,940,868 (GRCm39) |
S39P |
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,725,820 (GRCm39) |
N689S |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,888,864 (GRCm39) |
D302E |
unknown |
Het |
| D5Ertd579e |
C |
T |
5: 36,772,517 (GRCm39) |
S626N |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,312,674 (GRCm39) |
C1074S |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,009,592 (GRCm39) |
R660H |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,327,211 (GRCm39) |
D720V |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,267 (GRCm39) |
M1872T |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,783,089 (GRCm39) |
I13M |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,920 (GRCm39) |
F454L |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,513,499 (GRCm39) |
K43R |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,928,186 (GRCm39) |
E237K |
probably benign |
Het |
| Hey1 |
A |
G |
3: 8,729,932 (GRCm39) |
L175P |
possibly damaging |
Het |
| Jade1 |
G |
A |
3: 41,546,190 (GRCm39) |
V72M |
probably damaging |
Het |
| Klhl28 |
G |
A |
12: 65,003,875 (GRCm39) |
R213W |
probably damaging |
Het |
| Kprp |
C |
T |
3: 92,731,637 (GRCm39) |
R471H |
unknown |
Het |
| Lmtk3 |
A |
T |
7: 45,435,030 (GRCm39) |
M27L |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,374,933 (GRCm39) |
Y4508* |
probably null |
Het |
| Lypd5 |
T |
C |
7: 24,051,060 (GRCm39) |
V57A |
probably damaging |
Het |
| Mapk9 |
T |
G |
11: 49,754,422 (GRCm39) |
S58R |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,452,898 (GRCm39) |
K1661R |
probably damaging |
Het |
| Myl2 |
C |
T |
5: 122,244,750 (GRCm39) |
A140V |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,381,542 (GRCm39) |
Y428H |
probably damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,105,978 (GRCm39) |
F144S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,433,781 (GRCm39) |
R108Q |
probably benign |
Het |
| Or4c100 |
A |
T |
2: 88,356,148 (GRCm39) |
T74S |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,601 (GRCm39) |
Y122* |
probably null |
Het |
| Or5d40 |
G |
T |
2: 88,015,616 (GRCm39) |
V132F |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,177,532 (GRCm39) |
V42G |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,379,477 (GRCm39) |
N311K |
unknown |
Het |
| Rcbtb2 |
A |
T |
14: 73,403,992 (GRCm39) |
R197* |
probably null |
Het |
| Rfc4 |
A |
G |
16: 22,934,135 (GRCm39) |
I222T |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Rufy1 |
T |
C |
11: 50,321,736 (GRCm39) |
D66G |
probably benign |
Het |
| Rxfp1 |
A |
T |
3: 79,559,682 (GRCm39) |
C380S |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,358,145 (GRCm39) |
C699R |
probably damaging |
Het |
| Syngap1 |
G |
T |
17: 27,185,942 (GRCm39) |
A1291S |
possibly damaging |
Het |
| Tab1 |
C |
A |
15: 80,043,058 (GRCm39) |
N417K |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,763,738 (GRCm39) |
V772A |
possibly damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,790 (GRCm39) |
K285I |
probably damaging |
Het |
| Tnks2 |
A |
G |
19: 36,839,555 (GRCm39) |
N51D |
|
Het |
| Trpm7 |
G |
A |
2: 126,655,188 (GRCm39) |
T1250I |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,871 (GRCm39) |
D820G |
probably benign |
Het |
| Tsg101 |
T |
A |
7: 46,540,891 (GRCm39) |
I289L |
probably benign |
Het |
| Vmn1r173 |
C |
A |
7: 23,402,680 (GRCm39) |
T305K |
unknown |
Het |
| Vmn1r53 |
A |
T |
6: 90,201,132 (GRCm39) |
I64K |
possibly damaging |
Het |
| Zfp444 |
T |
C |
7: 6,191,185 (GRCm39) |
V122A |
probably benign |
Het |
| Zfp599 |
A |
G |
9: 22,160,764 (GRCm39) |
L467P |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,244,654 (GRCm39) |
E335G |
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 |
|
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 |
|
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'- GGGACTCCGTGGTATTAAGAG -3'
(R):5'- TAAGGCTATAGAACCGGTGGC -3'
Sequencing Primer
(F):5'- GGGACTCATAGGCTCGTCAAAATTTG -3'
(R):5'- CTATAGAACCGGTGGCGTGGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation