Incidental Mutation 'R8493:Topaz1'
| ID |
658136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
067935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R8493 (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 T
at 122579573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 828
(V828L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
AA Change: V828L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: V828L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,453 (GRCm39) |
M1L |
unknown |
Het |
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Ankrd10 |
C |
A |
8: 11,678,518 (GRCm39) |
E125* |
probably null |
Het |
| Apob |
A |
T |
12: 8,059,009 (GRCm39) |
D2497V |
possibly damaging |
Het |
| Arap1 |
G |
A |
7: 101,035,725 (GRCm39) |
W87* |
probably null |
Het |
| Arhgef37 |
C |
T |
18: 61,640,277 (GRCm39) |
V261I |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,472 (GRCm39) |
C92G |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,289,501 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
A |
C |
1: 87,706,704 (GRCm39) |
T355P |
probably damaging |
Het |
| Card14 |
T |
G |
11: 119,224,435 (GRCm39) |
|
probably null |
Het |
| Cd109 |
G |
A |
9: 78,564,801 (GRCm39) |
V249I |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,453 (GRCm39) |
D395G |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,822,207 (GRCm39) |
M1703I |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,752 (GRCm39) |
I277T |
probably benign |
Het |
| Chst4 |
A |
G |
8: 110,757,095 (GRCm39) |
V173A |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,911 (GRCm39) |
N731D |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,278,936 (GRCm39) |
E1122G |
possibly damaging |
Het |
| Csf1r |
C |
G |
18: 61,247,954 (GRCm39) |
P341A |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,215 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,343,804 (GRCm39) |
D2829V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,512,067 (GRCm39) |
N2998S |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,235,842 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
A |
T |
1: 185,139,371 (GRCm39) |
K919* |
probably null |
Het |
| Esp16 |
A |
T |
17: 39,850,821 (GRCm39) |
K67* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,259,367 (GRCm39) |
E474D |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,502 (GRCm39) |
R945H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,869,822 (GRCm38) |
V195E |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,567 (GRCm38) |
I86T |
probably damaging |
Het |
| Gm4744 |
G |
A |
6: 40,926,281 (GRCm39) |
S103F |
|
Het |
| Gvin2 |
A |
G |
7: 105,548,088 (GRCm39) |
S1655P |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,887,292 (GRCm39) |
I713N |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,306,266 (GRCm39) |
I105T |
probably damaging |
Het |
| Isl1 |
G |
T |
13: 116,441,835 (GRCm39) |
H133N |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,559,113 (GRCm39) |
L398Q |
possibly damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,681,003 (GRCm39) |
V195M |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,489,627 (GRCm39) |
K669* |
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,937,239 (GRCm39) |
R420H |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,321 (GRCm39) |
I197N |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,929 (GRCm39) |
T263A |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Naxe |
A |
G |
3: 87,965,757 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,068,677 (GRCm39) |
T51A |
probably benign |
Het |
| Nlrc5 |
T |
A |
8: 95,249,848 (GRCm39) |
L1824Q |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,251 (GRCm39) |
V27A |
unknown |
Het |
| Nucks1 |
A |
T |
1: 131,857,473 (GRCm39) |
M169L |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,083,215 (GRCm39) |
D311E |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,229 (GRCm39) |
S140N |
probably benign |
Het |
| Or4a80 |
T |
A |
2: 89,582,599 (GRCm39) |
Y191F |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,324 (GRCm39) |
H155L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,479 (GRCm39) |
S321T |
probably benign |
Het |
| Or52n20 |
G |
T |
7: 104,320,022 (GRCm39) |
V38L |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,114 (GRCm39) |
Y258F |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,239,457 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
T |
C |
9: 65,254,039 (GRCm39) |
S206P |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,575 (GRCm39) |
Y591* |
probably null |
Het |
| Pgap6 |
G |
T |
17: 26,340,931 (GRCm39) |
R678L |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,647 (GRCm39) |
M771I |
probably benign |
Het |
| Pramel47 |
C |
T |
5: 95,488,092 (GRCm39) |
H9Y |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,031 (GRCm39) |
Y1643C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,717,671 (GRCm39) |
I1906V |
probably benign |
Het |
| Rab33b |
T |
A |
3: 51,391,795 (GRCm39) |
S15T |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,284,467 (GRCm39) |
M644L |
possibly damaging |
Het |
| Rnf4 |
G |
A |
5: 34,506,035 (GRCm39) |
C55Y |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,780,735 (GRCm39) |
Y585* |
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,950,576 (GRCm39) |
F292Y |
probably damaging |
Het |
| Smarca4 |
G |
A |
9: 21,570,144 (GRCm39) |
D716N |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,266,837 (GRCm39) |
H323L |
possibly damaging |
Het |
| Speer1m |
T |
C |
5: 11,971,489 (GRCm39) |
L147P |
probably damaging |
Het |
| Sprtn |
A |
G |
8: 125,629,933 (GRCm39) |
S409G |
probably benign |
Het |
| St3gal2 |
T |
G |
8: 111,688,853 (GRCm39) |
L131R |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,399,552 (GRCm39) |
C91R |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,937,754 (GRCm39) |
V785E |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttc27 |
G |
A |
17: 75,050,047 (GRCm39) |
|
probably null |
Het |
| Usp2 |
G |
A |
9: 43,987,350 (GRCm39) |
G216D |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,020 (GRCm39) |
D580G |
probably benign |
Het |
| Wbp1l |
G |
A |
19: 46,640,988 (GRCm39) |
R106H |
possibly damaging |
Het |
| Zmym2 |
G |
T |
14: 57,151,606 (GRCm39) |
C497F |
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 |
|
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 |
|
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'- CATGTAATCACATCTCTGAACCAG -3'
(R):5'- ACCTCAAATCGCCTGGTTC -3'
Sequencing Primer
(F):5'- GTGCCAATTTCCTCTGAA -3'
(R):5'- TCTTCAGATACTCTGGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation