Incidental Mutation 'R1634:Topaz1'
| ID |
172995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
039671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 122609740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
| Validation Efficiency |
97% (67/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
| Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
| Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
| Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
| Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
| Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
| Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
| Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
| Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
| Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
| Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
| Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
| Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
| Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
| Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
| Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
| Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
| Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
| Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6209:Topaz1
|
UTSW |
9 |
122,579,570 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- TGCACACTGATCACACTGTTCAGC -3'
(R):5'- TCATGGACCAGGTTACTCACCAGC -3'
Sequencing Primer
(F):5'- TGCACAGTGATGCTGAACATAC -3'
(R):5'- GCATTTTAGCCATTATGCTGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation