Incidental Mutation 'R4472:Tubgcp6'
ID |
330434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
MMRRC Submission |
041729-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R4472 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88987857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1031
(S1031C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000166480]
|
AlphaFold |
G5E8P0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041656
AA Change: S1031C
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: S1031C
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082439
|
SMART Domains |
Protein: ENSMUSP00000081020 Gene: ENSMUSG00000035757
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
Pfam:UPF0061
|
79 |
625 |
8.3e-131 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109353
AA Change: S1039C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: S1039C
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163290
|
SMART Domains |
Protein: ENSMUSP00000131359 Gene: ENSMUSG00000051786
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
91 |
288 |
2.9e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166480
|
SMART Domains |
Protein: ENSMUSP00000132108 Gene: ENSMUSG00000051786
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
2 |
123 |
5e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169069
|
SMART Domains |
Protein: ENSMUSP00000132786 Gene: ENSMUSG00000051786
Domain | Start | End | E-Value | Type |
coiled coil region
|
77 |
107 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (66/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
A |
T |
9: 39,961,994 (GRCm39) |
|
noncoding transcript |
Het |
Accsl |
T |
A |
2: 93,694,336 (GRCm39) |
|
probably null |
Het |
Accsl |
G |
T |
2: 93,694,337 (GRCm39) |
|
probably null |
Het |
Adcy1 |
G |
A |
11: 7,080,369 (GRCm39) |
V371M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,902,146 (GRCm39) |
A509V |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,312,525 (GRCm39) |
Q754L |
probably damaging |
Het |
Agap2 |
T |
C |
10: 126,927,082 (GRCm39) |
I1008T |
probably damaging |
Het |
Aph1c |
T |
G |
9: 66,735,051 (GRCm39) |
H150P |
probably damaging |
Het |
Atcay |
T |
C |
10: 81,048,361 (GRCm39) |
R242G |
possibly damaging |
Het |
Atg2a |
G |
A |
19: 6,308,985 (GRCm39) |
V1724M |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,373,369 (GRCm39) |
V54A |
possibly damaging |
Het |
Card14 |
A |
G |
11: 119,224,784 (GRCm39) |
M604V |
possibly damaging |
Het |
Cd28 |
A |
T |
1: 60,802,393 (GRCm39) |
H104L |
probably benign |
Het |
Cntn5 |
A |
T |
9: 10,048,776 (GRCm39) |
D262E |
probably damaging |
Het |
Col6a3 |
A |
G |
1: 90,749,736 (GRCm39) |
V366A |
probably benign |
Het |
Csnk1d |
G |
A |
11: 120,855,800 (GRCm39) |
|
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,803,063 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
G |
A |
4: 11,304,053 (GRCm39) |
T119M |
possibly damaging |
Het |
Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,526,932 (GRCm39) |
|
probably benign |
Het |
Fbxo10 |
C |
T |
4: 45,043,693 (GRCm39) |
R710H |
probably damaging |
Het |
Fbxw9 |
G |
A |
8: 85,786,829 (GRCm39) |
D25N |
probably damaging |
Het |
Gm14295 |
C |
T |
2: 176,501,386 (GRCm39) |
T292I |
possibly damaging |
Het |
Gm4884 |
C |
G |
7: 40,692,687 (GRCm39) |
Q219E |
probably benign |
Het |
Gpr150 |
A |
G |
13: 76,204,273 (GRCm39) |
V224A |
probably benign |
Het |
Hps1 |
A |
T |
19: 42,750,935 (GRCm39) |
I355N |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,804,178 (GRCm39) |
S374P |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,289,782 (GRCm39) |
N5458K |
probably damaging |
Het |
Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
Morc3 |
A |
G |
16: 93,671,645 (GRCm39) |
|
probably null |
Het |
Mrgpra4 |
T |
C |
7: 47,631,539 (GRCm39) |
T21A |
probably benign |
Het |
Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
Nkain4 |
C |
G |
2: 180,596,415 (GRCm39) |
M1I |
probably null |
Het |
Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,879,220 (GRCm39) |
D373E |
possibly damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,870 (GRCm39) |
*312R |
probably null |
Het |
Oser1 |
T |
A |
2: 163,257,500 (GRCm39) |
E11V |
probably null |
Het |
Oser1 |
C |
T |
2: 163,257,501 (GRCm39) |
E11K |
probably damaging |
Het |
Pacsin3 |
A |
G |
2: 91,093,288 (GRCm39) |
|
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,706,434 (GRCm39) |
S289G |
probably benign |
Het |
Phlpp1 |
A |
G |
1: 106,314,176 (GRCm39) |
D1183G |
probably damaging |
Het |
Pign |
T |
C |
1: 105,575,945 (GRCm39) |
K232E |
probably benign |
Het |
Polk |
A |
G |
13: 96,630,413 (GRCm39) |
S383P |
probably damaging |
Het |
Prom2 |
C |
A |
2: 127,382,111 (GRCm39) |
R101L |
probably benign |
Het |
Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
Rnf31 |
T |
A |
14: 55,840,777 (GRCm39) |
Y1015N |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,954,152 (GRCm39) |
Y305H |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,099,810 (GRCm39) |
V587M |
probably benign |
Het |
Synj1 |
A |
G |
16: 90,766,069 (GRCm39) |
|
probably null |
Het |
Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
Tcaf1 |
A |
C |
6: 42,656,248 (GRCm39) |
S243A |
probably benign |
Het |
Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
Trav4-4-dv10 |
T |
C |
14: 53,921,187 (GRCm39) |
|
probably benign |
Het |
Trbv15 |
G |
A |
6: 41,118,493 (GRCm39) |
R83Q |
probably damaging |
Het |
Trim27 |
A |
G |
13: 21,374,056 (GRCm39) |
I268V |
probably benign |
Het |
Vmn1r89 |
C |
A |
7: 12,953,799 (GRCm39) |
H110Q |
probably benign |
Het |
Vmn2r30 |
T |
C |
7: 7,320,091 (GRCm39) |
N545S |
probably damaging |
Het |
Wls |
G |
A |
3: 159,603,020 (GRCm39) |
M144I |
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
Zeb2 |
A |
T |
2: 44,913,023 (GRCm39) |
L56Q |
probably damaging |
Het |
|
Other mutations in Tubgcp6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Tubgcp6
|
APN |
15 |
88,988,211 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00556:Tubgcp6
|
APN |
15 |
88,985,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00943:Tubgcp6
|
APN |
15 |
89,006,600 (GRCm39) |
nonsense |
probably null |
|
IGL01284:Tubgcp6
|
APN |
15 |
88,994,258 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01363:Tubgcp6
|
APN |
15 |
88,991,728 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01386:Tubgcp6
|
APN |
15 |
88,992,199 (GRCm39) |
nonsense |
probably null |
|
IGL01792:Tubgcp6
|
APN |
15 |
88,985,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01866:Tubgcp6
|
APN |
15 |
88,987,691 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02596:Tubgcp6
|
APN |
15 |
88,985,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02858:Tubgcp6
|
APN |
15 |
88,986,518 (GRCm39) |
nonsense |
probably null |
|
IGL02873:Tubgcp6
|
APN |
15 |
88,988,027 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03400:Tubgcp6
|
APN |
15 |
88,992,302 (GRCm39) |
unclassified |
probably benign |
|
IGL02796:Tubgcp6
|
UTSW |
15 |
89,006,593 (GRCm39) |
missense |
probably benign |
0.03 |
R0010:Tubgcp6
|
UTSW |
15 |
88,987,386 (GRCm39) |
missense |
probably benign |
0.00 |
R0308:Tubgcp6
|
UTSW |
15 |
89,006,639 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0440:Tubgcp6
|
UTSW |
15 |
88,987,268 (GRCm39) |
missense |
probably benign |
0.12 |
R0631:Tubgcp6
|
UTSW |
15 |
88,985,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1653:Tubgcp6
|
UTSW |
15 |
88,991,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Tubgcp6
|
UTSW |
15 |
89,000,444 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1902:Tubgcp6
|
UTSW |
15 |
89,000,444 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1905:Tubgcp6
|
UTSW |
15 |
88,984,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Tubgcp6
|
UTSW |
15 |
88,988,369 (GRCm39) |
missense |
probably benign |
0.01 |
R2067:Tubgcp6
|
UTSW |
15 |
88,988,692 (GRCm39) |
missense |
probably benign |
0.03 |
R2083:Tubgcp6
|
UTSW |
15 |
89,006,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R2285:Tubgcp6
|
UTSW |
15 |
89,006,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Tubgcp6
|
UTSW |
15 |
88,987,187 (GRCm39) |
missense |
probably benign |
0.22 |
R2436:Tubgcp6
|
UTSW |
15 |
88,986,568 (GRCm39) |
missense |
probably benign |
0.37 |
R3017:Tubgcp6
|
UTSW |
15 |
88,987,285 (GRCm39) |
nonsense |
probably null |
|
R3054:Tubgcp6
|
UTSW |
15 |
89,006,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R3932:Tubgcp6
|
UTSW |
15 |
88,988,617 (GRCm39) |
unclassified |
probably benign |
|
R4350:Tubgcp6
|
UTSW |
15 |
88,988,198 (GRCm39) |
missense |
probably benign |
0.00 |
R4864:Tubgcp6
|
UTSW |
15 |
88,988,021 (GRCm39) |
missense |
probably benign |
|
R4937:Tubgcp6
|
UTSW |
15 |
88,985,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R4983:Tubgcp6
|
UTSW |
15 |
88,990,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Tubgcp6
|
UTSW |
15 |
88,987,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5044:Tubgcp6
|
UTSW |
15 |
88,983,748 (GRCm39) |
unclassified |
probably benign |
|
R5122:Tubgcp6
|
UTSW |
15 |
89,000,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Tubgcp6
|
UTSW |
15 |
88,995,353 (GRCm39) |
missense |
probably benign |
0.02 |
R5608:Tubgcp6
|
UTSW |
15 |
88,995,353 (GRCm39) |
missense |
probably benign |
0.02 |
R5653:Tubgcp6
|
UTSW |
15 |
88,992,815 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5886:Tubgcp6
|
UTSW |
15 |
88,987,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5945:Tubgcp6
|
UTSW |
15 |
88,993,420 (GRCm39) |
splice site |
probably null |
|
R6111:Tubgcp6
|
UTSW |
15 |
88,985,123 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6195:Tubgcp6
|
UTSW |
15 |
89,006,994 (GRCm39) |
missense |
probably benign |
0.01 |
R6792:Tubgcp6
|
UTSW |
15 |
89,007,080 (GRCm39) |
start gained |
probably benign |
|
R7074:Tubgcp6
|
UTSW |
15 |
89,004,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Tubgcp6
|
UTSW |
15 |
88,985,232 (GRCm39) |
missense |
probably damaging |
0.96 |
R7274:Tubgcp6
|
UTSW |
15 |
88,987,173 (GRCm39) |
nonsense |
probably null |
|
R7275:Tubgcp6
|
UTSW |
15 |
88,987,146 (GRCm39) |
nonsense |
probably null |
|
R7514:Tubgcp6
|
UTSW |
15 |
89,004,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R7540:Tubgcp6
|
UTSW |
15 |
88,986,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7571:Tubgcp6
|
UTSW |
15 |
88,984,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Tubgcp6
|
UTSW |
15 |
88,988,426 (GRCm39) |
missense |
probably benign |
|
R7721:Tubgcp6
|
UTSW |
15 |
88,985,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R7980:Tubgcp6
|
UTSW |
15 |
88,986,232 (GRCm39) |
missense |
probably benign |
0.03 |
R7996:Tubgcp6
|
UTSW |
15 |
88,993,231 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8095:Tubgcp6
|
UTSW |
15 |
89,006,977 (GRCm39) |
missense |
probably benign |
0.07 |
R8191:Tubgcp6
|
UTSW |
15 |
89,004,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R8510:Tubgcp6
|
UTSW |
15 |
88,987,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8839:Tubgcp6
|
UTSW |
15 |
88,987,681 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8862:Tubgcp6
|
UTSW |
15 |
89,006,824 (GRCm39) |
missense |
probably benign |
0.03 |
R9044:Tubgcp6
|
UTSW |
15 |
88,987,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9321:Tubgcp6
|
UTSW |
15 |
88,992,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9402:Tubgcp6
|
UTSW |
15 |
88,987,064 (GRCm39) |
missense |
probably benign |
0.01 |
R9428:Tubgcp6
|
UTSW |
15 |
88,985,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATCTGACACATGTCCGTG -3'
(R):5'- GTGACAAACAGCATCTACTGGGG -3'
Sequencing Primer
(F):5'- TGGACATTCCACCGTGGC -3'
(R):5'- ACAGCATCTACTGGGGGATATGTC -3'
|
Posted On |
2015-07-21 |