Incidental Mutation 'R8922:Topaz1'
| ID |
679346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
068767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122625101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1395
(E1395D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: E1395D
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: E1395D
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (78/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,295,177 (GRCm39) |
D105G |
possibly damaging |
Het |
| Abhd14b |
T |
C |
9: 106,328,835 (GRCm39) |
|
probably null |
Het |
| Acot1 |
C |
T |
12: 84,064,085 (GRCm39) |
Q398* |
probably null |
Het |
| Adam26b |
A |
T |
8: 43,973,216 (GRCm39) |
D595E |
probably damaging |
Het |
| Aldh1l1 |
T |
A |
6: 90,536,256 (GRCm39) |
F54I |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,223,417 (GRCm39) |
E871K |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,089,830 (GRCm39) |
D456V |
possibly damaging |
Het |
| Cacna1b |
A |
C |
2: 24,622,340 (GRCm39) |
S215A |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,952 (GRCm39) |
T108S |
|
Het |
| Ccdc91 |
C |
T |
6: 147,412,358 (GRCm39) |
Q23* |
probably null |
Het |
| Cd300lg |
A |
T |
11: 101,945,028 (GRCm39) |
I413F |
probably damaging |
Het |
| Ces2h |
T |
A |
8: 105,744,756 (GRCm39) |
M378K |
probably benign |
Het |
| Cfap44 |
C |
T |
16: 44,272,030 (GRCm39) |
T1261I |
probably benign |
Het |
| Cir1 |
G |
A |
2: 73,118,053 (GRCm39) |
S164L |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,725,728 (GRCm39) |
K790* |
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,213 (GRCm39) |
D183E |
probably damaging |
Het |
| Dhrs13 |
A |
G |
11: 77,923,425 (GRCm39) |
I48V |
possibly damaging |
Het |
| Dpp8 |
G |
T |
9: 64,981,793 (GRCm39) |
V692L |
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,055,838 (GRCm39) |
I660N |
probably benign |
Het |
| Exosc5 |
T |
C |
7: 25,363,673 (GRCm39) |
V88A |
probably benign |
Het |
| Extl3 |
G |
A |
14: 65,292,255 (GRCm39) |
T856I |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,456,835 (GRCm39) |
V2277A |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,923,295 (GRCm39) |
I52T |
probably benign |
Het |
| Gm8947 |
C |
T |
1: 151,068,655 (GRCm39) |
R163C |
probably benign |
Het |
| Golga7 |
A |
T |
8: 23,740,288 (GRCm39) |
C81S |
probably damaging |
Het |
| Grik1 |
A |
C |
16: 87,693,167 (GRCm39) |
S879A |
unknown |
Het |
| Helz |
A |
G |
11: 107,539,985 (GRCm39) |
T1002A |
possibly damaging |
Het |
| Hes1 |
T |
A |
16: 29,884,725 (GRCm39) |
L62* |
probably null |
Het |
| Hmgn2-ps |
A |
G |
8: 73,058,953 (GRCm39) |
S25P |
probably benign |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,419 (GRCm39) |
Y371* |
probably null |
Het |
| Ifna11 |
T |
C |
4: 88,738,431 (GRCm39) |
V79A |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,085,938 (GRCm39) |
|
probably benign |
Het |
| Kap |
T |
C |
6: 133,827,054 (GRCm39) |
I110V |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,172,231 (GRCm39) |
K342E |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,263,973 (GRCm39) |
D1549G |
probably damaging |
Het |
| Luzp1 |
C |
T |
4: 136,270,233 (GRCm39) |
H819Y |
probably damaging |
Het |
| Mmp21 |
T |
A |
7: 133,276,000 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,377,928 (GRCm39) |
V590A |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,492,222 (GRCm39) |
L122P |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,582,938 (GRCm39) |
Y161C |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,163,939 (GRCm39) |
V197A |
unknown |
Het |
| Opn4 |
A |
C |
14: 34,314,955 (GRCm39) |
S439R |
probably benign |
Het |
| Or12j3 |
T |
A |
7: 139,953,389 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or4c3d |
C |
A |
2: 89,882,695 (GRCm39) |
|
probably benign |
Het |
| Or56a41 |
C |
A |
7: 104,740,469 (GRCm39) |
V126L |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,957 (GRCm39) |
D231E |
unknown |
Het |
| Pik3c2a |
G |
T |
7: 116,017,659 (GRCm39) |
Q33K |
probably damaging |
Het |
| Pm20d1 |
G |
T |
1: 131,728,853 (GRCm39) |
S93I |
possibly damaging |
Het |
| Pou3f1 |
C |
T |
4: 124,552,176 (GRCm39) |
A226V |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,923,815 (GRCm39) |
E191G |
probably benign |
Het |
| Prkag1 |
T |
C |
15: 98,712,147 (GRCm39) |
T208A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,194 (GRCm39) |
I871T |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,612,627 (GRCm39) |
S293P |
probably damaging |
Het |
| Rprd2 |
G |
T |
3: 95,687,896 (GRCm39) |
T252K |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,363,766 (GRCm39) |
R458L |
probably benign |
Het |
| Scrib |
C |
T |
15: 75,933,587 (GRCm39) |
|
probably null |
Het |
| Sec24d |
G |
A |
3: 123,144,488 (GRCm39) |
G655E |
probably damaging |
Het |
| Serpine3 |
A |
G |
14: 62,910,503 (GRCm39) |
R199G |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Slc44a1 |
A |
G |
4: 53,544,545 (GRCm39) |
K419E |
probably damaging |
Het |
| Speer4a3 |
C |
T |
5: 26,156,594 (GRCm39) |
M128I |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
| Tcstv2a |
A |
G |
13: 120,725,666 (GRCm39) |
E110G |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,454,163 (GRCm39) |
K346E |
probably damaging |
Het |
| Thpo |
A |
T |
16: 20,547,680 (GRCm39) |
L6Q |
unknown |
Het |
| Tlr2 |
T |
A |
3: 83,745,075 (GRCm39) |
E336V |
probably benign |
Het |
| Tmem167b |
A |
G |
3: 108,467,541 (GRCm39) |
L35P |
probably benign |
Het |
| Trim29 |
G |
T |
9: 43,233,636 (GRCm39) |
R434L |
possibly damaging |
Het |
| Trim68 |
T |
C |
7: 102,327,550 (GRCm39) |
I468V |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,542,628 (GRCm39) |
V33453F |
probably benign |
Het |
| Ubac1 |
A |
T |
2: 25,896,621 (GRCm39) |
V298D |
probably damaging |
Het |
| Vmn1r185 |
C |
A |
7: 26,310,825 (GRCm39) |
V227F |
probably damaging |
Het |
| Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,743,857 (GRCm39) |
Y152H |
probably benign |
Het |
| Zbtb20 |
A |
T |
16: 43,397,968 (GRCm39) |
N19I |
probably damaging |
Het |
| Zfp438 |
A |
G |
18: 5,213,422 (GRCm39) |
M512T |
possibly 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 |
|
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 |
|
|
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'- AATCCAGCTTTAGAAGGCAGG -3'
(R):5'- CAGATGGAGAAATGTCTTAACTGGC -3'
Sequencing Primer
(F):5'- CAGGTTCAGCTACTGTGGAAACTC -3'
(R):5'- GAGGGATTGAATTCCTTCTTACAGCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation