Incidental Mutation 'R9557:Topaz1'
| ID |
720810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R9557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122578530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 480
(D480G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: D480G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: D480G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,659,160 (GRCm39) |
N204K |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
G |
3: 59,784,654 (GRCm39) |
F376V |
possibly damaging |
Het |
| Abca5 |
A |
G |
11: 110,197,109 (GRCm39) |
L523P |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,327 (GRCm39) |
V590A |
probably damaging |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,485,347 (GRCm39) |
P187H |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,095 (GRCm39) |
V616F |
probably benign |
Het |
| Apc |
C |
A |
18: 34,451,412 (GRCm39) |
H2769Q |
probably damaging |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| C2cd2l |
G |
A |
9: 44,231,127 (GRCm39) |
A20V |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,904,223 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,527 (GRCm39) |
S233G |
possibly damaging |
Het |
| Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
| Cyp2b13 |
A |
C |
7: 25,780,123 (GRCm39) |
N91T |
probably benign |
Het |
| Dhx9 |
A |
C |
1: 153,333,292 (GRCm39) |
M1151R |
probably benign |
Het |
| Dync2i2 |
G |
A |
2: 29,922,534 (GRCm39) |
A366V |
possibly damaging |
Het |
| E2f5 |
G |
T |
3: 14,653,311 (GRCm39) |
L142F |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,241,656 (GRCm39) |
N917K |
probably damaging |
Het |
| Ercc6l2 |
C |
T |
13: 63,989,936 (GRCm39) |
R254C |
probably damaging |
Het |
| Erh |
G |
A |
12: 80,689,571 (GRCm39) |
P18S |
probably benign |
Het |
| Fam110b |
T |
C |
4: 5,799,064 (GRCm39) |
S161P |
probably damaging |
Het |
| Fam210a |
TAAAATGTTCCAAA |
TAAA |
18: 68,408,848 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,180,458 (GRCm39) |
I1775V |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,389,781 (GRCm39) |
Q137K |
|
Het |
| Gm4787 |
A |
T |
12: 81,426,074 (GRCm39) |
L28* |
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,235,029 (GRCm39) |
F434L |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,404,105 (GRCm39) |
Y252C |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,459,617 (GRCm39) |
T829A |
possibly damaging |
Het |
| Ing4 |
A |
G |
6: 125,025,354 (GRCm39) |
E245G |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,827,084 (GRCm39) |
A196V |
probably damaging |
Het |
| Lrrc51 |
T |
A |
7: 101,562,329 (GRCm39) |
K176N |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,532,981 (GRCm39) |
M950K |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,901,432 (GRCm39) |
D579V |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,933 (GRCm39) |
I1072S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,657,474 (GRCm39) |
T101I |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,049,976 (GRCm39) |
V72E |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,058,511 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Mllt6 |
A |
G |
11: 97,564,310 (GRCm39) |
D342G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,372,697 (GRCm39) |
T4050S |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,274,509 (GRCm39) |
T307A |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,768 (GRCm39) |
I305T |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,262,669 (GRCm39) |
F125L |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,501 (GRCm39) |
M127K |
probably benign |
Het |
| Ppp4r1 |
C |
A |
17: 66,110,258 (GRCm39) |
D52E |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,807,139 (GRCm39) |
I201S |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,696,870 (GRCm39) |
M244L |
probably benign |
Het |
| Rhbdl3 |
A |
T |
11: 80,244,277 (GRCm39) |
H328L |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,495,521 (GRCm39) |
I325F |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,847 (GRCm39) |
V485A |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,561,474 (GRCm39) |
N2S |
probably benign |
Het |
| Sox4 |
G |
T |
13: 29,136,913 (GRCm39) |
A31E |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,475,451 (GRCm39) |
C2S |
|
Het |
| Tet2 |
A |
G |
3: 133,191,566 (GRCm39) |
I956T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt1a6b |
G |
T |
1: 88,034,820 (GRCm39) |
G53* |
probably null |
Het |
| Vmn1r173 |
T |
C |
7: 23,402,209 (GRCm39) |
V148A |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,666 (GRCm39) |
V196A |
probably damaging |
Het |
| Wfdc6a |
T |
A |
2: 164,425,758 (GRCm39) |
D71V |
possibly damaging |
Het |
| Zc3h3 |
T |
C |
15: 75,711,145 (GRCm39) |
K439E |
probably damaging |
Het |
| Zfp367 |
T |
C |
13: 64,300,586 (GRCm39) |
H73R |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,107 (GRCm39) |
R342* |
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 |
|
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 |
|
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'- ACCTAGTGACGGCCATCATATG -3'
(R):5'- TGGGACATAGCTTCCTTTATATCC -3'
Sequencing Primer
(F):5'- TCATATGGAAAAGAGATCTCCACG -3'
(R):5'- AGCTTCCTTTATATCCATCACAGTAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation