Incidental Mutation 'R0220:Topaz1'
| ID |
33795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
038469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122578368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 426
(H426R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: H426R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: H426R
| 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: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,195,194 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,187,852 (GRCm39) |
V863A |
probably benign |
Het |
| Anxa6 |
A |
C |
11: 54,872,588 (GRCm39) |
|
probably null |
Het |
| Armc10 |
A |
G |
5: 21,866,582 (GRCm39) |
K296R |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,287,293 (GRCm39) |
F38I |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bcl6 |
T |
A |
16: 23,784,969 (GRCm39) |
H677L |
possibly damaging |
Het |
| Bcl7a |
G |
A |
5: 123,489,982 (GRCm39) |
V49I |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,254 (GRCm39) |
L144P |
probably damaging |
Het |
| Cdh8 |
G |
T |
8: 99,838,311 (GRCm39) |
P510T |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,632,225 (GRCm39) |
K375N |
possibly damaging |
Het |
| Cubn |
C |
A |
2: 13,361,520 (GRCm39) |
R1695L |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,080 (GRCm39) |
V253I |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,476 (GRCm39) |
I208T |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,759,727 (GRCm39) |
E277D |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,542 (GRCm39) |
V625I |
probably benign |
Het |
| Dot1l |
A |
T |
10: 80,621,692 (GRCm39) |
D448V |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,582 (GRCm39) |
D253G |
probably damaging |
Het |
| Eme1 |
T |
A |
11: 94,541,084 (GRCm39) |
E246V |
probably null |
Het |
| Foxred1 |
A |
G |
9: 35,120,749 (GRCm39) |
L128P |
probably damaging |
Het |
| Gm4787 |
G |
T |
12: 81,425,422 (GRCm39) |
S245R |
probably damaging |
Het |
| Gm5141 |
T |
A |
13: 62,922,271 (GRCm39) |
K299N |
probably damaging |
Het |
| Greb1 |
C |
A |
12: 16,732,287 (GRCm39) |
R1558L |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,364,203 (GRCm39) |
F282I |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,374,947 (GRCm39) |
D288G |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,418 (GRCm39) |
V480E |
probably benign |
Het |
| Kif26a |
A |
T |
12: 112,123,824 (GRCm39) |
Q143L |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,829 (GRCm39) |
D97N |
probably benign |
Het |
| Krt34 |
C |
T |
11: 99,929,519 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
A |
T |
2: 25,667,843 (GRCm39) |
H77L |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,342,672 (GRCm39) |
R529H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,936 (GRCm39) |
E368G |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,447,609 (GRCm39) |
M442K |
probably damaging |
Het |
| Naca |
T |
C |
10: 127,879,255 (GRCm39) |
|
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,724 (GRCm39) |
T1021I |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,013 (GRCm39) |
V530E |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,467 (GRCm39) |
V283A |
probably damaging |
Het |
| Opn5 |
A |
G |
17: 42,907,495 (GRCm39) |
V127A |
probably benign |
Het |
| Or4c126 |
G |
T |
2: 89,824,206 (GRCm39) |
L156F |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,095 (GRCm39) |
M116K |
probably damaging |
Het |
| Pcgf6 |
A |
G |
19: 47,028,529 (GRCm39) |
V291A |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,869,459 (GRCm39) |
R47L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,383,027 (GRCm39) |
S72A |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,214,167 (GRCm39) |
F144S |
possibly damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,319,505 (GRCm39) |
D798V |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,068,999 (GRCm39) |
S563P |
probably damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,271 (GRCm39) |
C138S |
possibly damaging |
Het |
| Traf1 |
A |
T |
2: 34,839,115 (GRCm39) |
V70D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,641,737 (GRCm39) |
Y13453C |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,183,931 (GRCm39) |
V97D |
possibly damaging |
Het |
| Ugt1a8 |
A |
T |
1: 88,016,057 (GRCm39) |
I157L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,332 (GRCm39) |
C700S |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,723,733 (GRCm39) |
D216V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,163,198 (GRCm39) |
Y533H |
unknown |
Het |
| Zfp1005 |
A |
T |
2: 150,110,595 (GRCm39) |
Q428H |
unknown |
Het |
| Zfp81 |
A |
G |
17: 33,555,698 (GRCm39) |
I43T |
possibly damaging |
Het |
| Zfp963 |
A |
T |
8: 70,196,145 (GRCm39) |
Y103N |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,196,143 (GRCm39) |
Y103* |
probably null |
Het |
| Zzef1 |
G |
T |
11: 72,756,792 (GRCm39) |
D1126Y |
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 |
|
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 |
|
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'- TGGACCATTTGTGTCTCCCCAAAAC -3'
(R):5'- CCTAACATTTTCCAGTGGCCCCAG -3'
Sequencing Primer
(F):5'- TGTGTCTCCCCAAAACAGTGG -3'
(R):5'- CAGTGGCCCCAGAAGTGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation