Incidental Mutation 'R6209:Topaz1'
| ID |
503342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
044343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6209 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122579570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 827
(D827N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: D827N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: D827N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
1129 |
1139 |
N/A |
INTRINSIC |
|
Pfam:Asp_Glu_race_2
|
1189 |
1422 |
3.6e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213519
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with abnormal meiosis and apoptosis of male germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
A |
1: 38,232,670 (GRCm39) |
M990L |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,845 (GRCm39) |
Y429* |
probably null |
Het |
| Ahnak |
A |
T |
19: 8,989,930 (GRCm39) |
K3738M |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,241,845 (GRCm39) |
V304L |
probably damaging |
Het |
| Ap3s1 |
G |
A |
18: 46,912,318 (GRCm39) |
V113I |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,065,917 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
G |
15: 57,981,811 (GRCm39) |
S18P |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,341 (GRCm39) |
A288V |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,960,061 (GRCm39) |
E305V |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,726,095 (GRCm39) |
S1401P |
possibly damaging |
Het |
| Cblc |
A |
T |
7: 19,519,230 (GRCm39) |
V366D |
possibly damaging |
Het |
| Cdk17 |
A |
T |
10: 93,044,093 (GRCm39) |
T11S |
probably benign |
Het |
| Cenpc1 |
A |
G |
5: 86,181,509 (GRCm39) |
S619P |
probably benign |
Het |
| Clec4d |
T |
G |
6: 123,247,488 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,617,402 (GRCm39) |
L132P |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,165,677 (GRCm39) |
K528R |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,804,069 (GRCm39) |
V262A |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 131,110,434 (GRCm39) |
M302L |
probably benign |
Het |
| Gpn3 |
T |
C |
5: 122,520,175 (GRCm39) |
I243T |
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,950,141 (GRCm39) |
V71A |
possibly damaging |
Het |
| Gramd1b |
G |
T |
9: 40,244,946 (GRCm39) |
A154D |
probably damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,163,043 (GRCm39) |
T206N |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,320,434 (GRCm39) |
I4493F |
probably benign |
Het |
| Il19 |
C |
T |
1: 130,866,852 (GRCm39) |
E43K |
possibly damaging |
Het |
| Ints2 |
A |
G |
11: 86,115,884 (GRCm39) |
Y782H |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,851,306 (GRCm39) |
I62N |
probably damaging |
Het |
| Jph1 |
C |
A |
1: 17,167,810 (GRCm39) |
D7Y |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,726,852 (GRCm39) |
I62V |
probably damaging |
Het |
| Map7 |
G |
A |
10: 20,152,026 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,095,422 (GRCm39) |
W81G |
probably damaging |
Het |
| Matn4 |
T |
C |
2: 164,242,735 (GRCm39) |
Y121C |
probably damaging |
Het |
| Mical2 |
G |
A |
7: 111,923,293 (GRCm39) |
|
probably null |
Het |
| Miga2 |
T |
G |
2: 30,271,674 (GRCm39) |
Y399D |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,799,672 (GRCm39) |
E302V |
probably benign |
Het |
| Mrpl11 |
C |
T |
19: 5,014,743 (GRCm39) |
A172V |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,209,001 (GRCm39) |
Y108D |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,205,278 (GRCm39) |
S1061P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,026,155 (GRCm39) |
K1309* |
probably null |
Het |
| Myom2 |
G |
A |
8: 15,154,173 (GRCm39) |
V704I |
possibly damaging |
Het |
| Nars2 |
A |
G |
7: 96,706,728 (GRCm39) |
H413R |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,355,946 (GRCm39) |
L619P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,362,817 (GRCm39) |
N983S |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,002,337 (GRCm39) |
V717A |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,966,292 (GRCm39) |
G479V |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,525,028 (GRCm39) |
S59P |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,700,798 (GRCm39) |
S95N |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,065,993 (GRCm39) |
V375A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,456 (GRCm39) |
E3086G |
probably damaging |
Het |
| Psg22 |
A |
G |
7: 18,453,599 (GRCm39) |
E98G |
probably damaging |
Het |
| Rabgap1 |
A |
T |
2: 37,453,610 (GRCm39) |
K1013* |
probably null |
Het |
| Retreg3 |
C |
T |
11: 101,010,526 (GRCm39) |
G27D |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sema6a |
A |
T |
18: 47,431,369 (GRCm39) |
|
probably null |
Het |
| Septin10 |
T |
C |
10: 59,006,670 (GRCm39) |
E349G |
probably damaging |
Het |
| Serpina1c |
A |
G |
12: 103,863,429 (GRCm39) |
V257A |
probably damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,367,119 (GRCm39) |
M84K |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,043,869 (GRCm39) |
*1482R |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,101,907 (GRCm39) |
S116G |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,227,557 (GRCm39) |
V459I |
probably benign |
Het |
| Smarca2 |
T |
G |
19: 26,748,404 (GRCm39) |
Y126* |
probably null |
Het |
| Stab2 |
T |
G |
10: 86,758,867 (GRCm39) |
N1024H |
possibly damaging |
Het |
| Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,128,869 (GRCm39) |
F609L |
probably benign |
Het |
| Tbc1d2 |
G |
A |
4: 46,614,068 (GRCm39) |
T671I |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,855,697 (GRCm39) |
I82T |
probably damaging |
Het |
| Tmem213 |
G |
T |
6: 38,092,517 (GRCm39) |
C83F |
probably damaging |
Het |
| Trappc10 |
C |
A |
10: 78,050,646 (GRCm39) |
G265V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,539,808 (GRCm39) |
S26066P |
probably damaging |
Het |
| Zfp292 |
G |
T |
4: 34,809,442 (GRCm39) |
Q1201K |
probably benign |
Het |
| Zfp354a |
T |
A |
11: 50,951,815 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
T |
C |
7: 7,185,096 (GRCm39) |
V353A |
possibly damaging |
Het |
| Zfp444 |
G |
A |
7: 6,192,948 (GRCm39) |
|
probably benign |
Het |
| Zfp503 |
C |
A |
14: 22,035,778 (GRCm39) |
Q379H |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,462 (GRCm39) |
K764E |
probably damaging |
Het |
|
| Other mutations in Topaz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0083:Topaz1
|
UTSW |
9 |
122,604,674 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0098:Topaz1
|
UTSW |
9 |
122,619,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0098:Topaz1
|
UTSW |
9 |
122,619,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0108:Topaz1
|
UTSW |
9 |
122,604,674 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0220:Topaz1
|
UTSW |
9 |
122,578,368 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0519:Topaz1
|
UTSW |
9 |
122,578,544 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0617:Topaz1
|
UTSW |
9 |
122,578,971 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0637:Topaz1
|
UTSW |
9 |
122,626,727 (GRCm39) |
missense |
probably benign |
|
|
R0637:Topaz1
|
UTSW |
9 |
122,620,542 (GRCm39) |
nonsense |
probably null |
|
|
R1368:Topaz1
|
UTSW |
9 |
122,577,315 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1519:Topaz1
|
UTSW |
9 |
122,596,076 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1526:Topaz1
|
UTSW |
9 |
122,625,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:Topaz1
|
UTSW |
9 |
122,609,740 (GRCm39) |
splice site |
probably benign |
|
|
R1871:Topaz1
|
UTSW |
9 |
122,628,544 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1879:Topaz1
|
UTSW |
9 |
122,578,684 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1913:Topaz1
|
UTSW |
9 |
122,596,078 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1977:Topaz1
|
UTSW |
9 |
122,576,427 (GRCm39) |
missense |
unknown |
|
|
R1989:Topaz1
|
UTSW |
9 |
122,579,190 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2237:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R2238:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R2239:Topaz1
|
UTSW |
9 |
122,600,212 (GRCm39) |
missense |
probably benign |
|
|
R3160:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3161:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3162:Topaz1
|
UTSW |
9 |
122,578,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3821:Topaz1
|
UTSW |
9 |
122,626,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3822:Topaz1
|
UTSW |
9 |
122,626,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3944:Topaz1
|
UTSW |
9 |
122,579,669 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4571:Topaz1
|
UTSW |
9 |
122,576,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4580:Topaz1
|
UTSW |
9 |
122,576,580 (GRCm39) |
missense |
probably null |
0.00 |
|
R5043:Topaz1
|
UTSW |
9 |
122,577,469 (GRCm39) |
missense |
probably benign |
|
|
R5084:Topaz1
|
UTSW |
9 |
122,577,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5234:Topaz1
|
UTSW |
9 |
122,619,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5388:Topaz1
|
UTSW |
9 |
122,603,158 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5471:Topaz1
|
UTSW |
9 |
122,620,481 (GRCm39) |
splice site |
probably null |
|
|
R5706:Topaz1
|
UTSW |
9 |
122,628,550 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5993:Topaz1
|
UTSW |
9 |
122,578,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Topaz1
|
UTSW |
9 |
122,578,931 (GRCm39) |
missense |
probably benign |
|
|
R6137:Topaz1
|
UTSW |
9 |
122,626,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6186:Topaz1
|
UTSW |
9 |
122,577,891 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6543:Topaz1
|
UTSW |
9 |
122,577,600 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6548:Topaz1
|
UTSW |
9 |
122,577,419 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6557:Topaz1
|
UTSW |
9 |
122,577,960 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6636:Topaz1
|
UTSW |
9 |
122,578,851 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6637:Topaz1
|
UTSW |
9 |
122,578,851 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6859:Topaz1
|
UTSW |
9 |
122,631,023 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7123:Topaz1
|
UTSW |
9 |
122,577,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Topaz1
|
UTSW |
9 |
122,626,770 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7319:Topaz1
|
UTSW |
9 |
122,579,428 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7743:Topaz1
|
UTSW |
9 |
122,614,201 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7810:Topaz1
|
UTSW |
9 |
122,578,250 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7871:Topaz1
|
UTSW |
9 |
122,609,765 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7875:Topaz1
|
UTSW |
9 |
122,578,652 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7916:Topaz1
|
UTSW |
9 |
122,576,499 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8116:Topaz1
|
UTSW |
9 |
122,604,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8437:Topaz1
|
UTSW |
9 |
122,610,427 (GRCm39) |
nonsense |
probably null |
|
|
R8470:Topaz1
|
UTSW |
9 |
122,603,173 (GRCm39) |
missense |
probably benign |
|
|
R8487:Topaz1
|
UTSW |
9 |
122,579,001 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8493:Topaz1
|
UTSW |
9 |
122,579,573 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8919:Topaz1
|
UTSW |
9 |
122,626,930 (GRCm39) |
splice site |
probably benign |
|
|
R8922:Topaz1
|
UTSW |
9 |
122,625,101 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9019:Topaz1
|
UTSW |
9 |
122,619,192 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9126:Topaz1
|
UTSW |
9 |
122,625,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9230:Topaz1
|
UTSW |
9 |
122,596,097 (GRCm39) |
missense |
probably benign |
|
|
R9302:Topaz1
|
UTSW |
9 |
122,617,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9408:Topaz1
|
UTSW |
9 |
122,626,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9469:Topaz1
|
UTSW |
9 |
122,577,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Topaz1
|
UTSW |
9 |
122,604,707 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9557:Topaz1
|
UTSW |
9 |
122,578,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9564:Topaz1
|
UTSW |
9 |
122,579,219 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9726:Topaz1
|
UTSW |
9 |
122,603,935 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9726:Topaz1
|
UTSW |
9 |
122,603,934 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0020:Topaz1
|
UTSW |
9 |
122,603,134 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1176:Topaz1
|
UTSW |
9 |
122,620,559 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTAATCACATCTCTGAACCAGG -3'
(R):5'- ACCTCAAATCGCCTGGTTC -3'
Sequencing Primer
(F):5'- ACAAGAAGCATTTGTGCC -3'
(R):5'- TCTTCAGATACTCTGGGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation