Incidental Mutation 'R7916:Topaz1'
| ID |
648088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
045964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R7916 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122576499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 30
(L30R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
AA Change: L30R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: L30R
| 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: 98.8%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,682,454 (GRCm39) |
L195* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,983,196 (GRCm39) |
D1493E |
possibly damaging |
Het |
| Alox12e |
C |
A |
11: 70,212,111 (GRCm39) |
R162L |
probably benign |
Het |
| Bax |
T |
G |
7: 45,115,539 (GRCm39) |
Q32P |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,493 (GRCm39) |
M204T |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,761,684 (GRCm39) |
Y2256* |
probably null |
Het |
| Chuk |
A |
G |
19: 44,085,420 (GRCm39) |
I242T |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,987,715 (GRCm39) |
S1468P |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,789 (GRCm39) |
H159R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,311,815 (GRCm39) |
K1174E |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,311,974 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
C |
A |
19: 4,967,052 (GRCm39) |
E351* |
probably null |
Het |
| Dyrk1a |
A |
G |
16: 94,474,200 (GRCm39) |
Y319C |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,719,841 (GRCm39) |
S458P |
probably damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,746,708 (GRCm39) |
L425F |
probably damaging |
Het |
| Emp2 |
C |
A |
16: 10,102,437 (GRCm39) |
R125L |
possibly damaging |
Het |
| Farsb |
A |
G |
1: 78,435,200 (GRCm39) |
|
probably null |
Het |
| Frk |
A |
T |
10: 34,360,021 (GRCm39) |
R7S |
possibly damaging |
Het |
| Glb1l2 |
T |
C |
9: 26,678,720 (GRCm39) |
T483A |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,680,586 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm7324 |
T |
G |
14: 43,952,003 (GRCm39) |
D215E |
probably benign |
Het |
| Gng13 |
A |
T |
17: 25,937,932 (GRCm39) |
K44* |
probably null |
Het |
| Gprin1 |
C |
T |
13: 54,887,263 (GRCm39) |
G337D |
possibly damaging |
Het |
| Ighv1-84 |
G |
T |
12: 115,944,609 (GRCm39) |
Q22K |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,348,304 (GRCm39) |
H210R |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,304,578 (GRCm39) |
S113L |
probably benign |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kmo |
G |
T |
1: 175,487,236 (GRCm39) |
G430W |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Ldhd |
T |
G |
8: 112,356,023 (GRCm39) |
D120A |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,821,657 (GRCm39) |
S1344P |
possibly damaging |
Het |
| Mb |
T |
A |
15: 76,900,257 (GRCm39) |
I112F |
probably damaging |
Het |
| Mbd5 |
G |
A |
2: 49,147,118 (GRCm39) |
V443M |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,654,688 (GRCm39) |
K180R |
possibly damaging |
Het |
| Mst1r |
T |
C |
9: 107,784,777 (GRCm39) |
F145S |
probably damaging |
Het |
| Mthfd2 |
A |
T |
6: 83,286,455 (GRCm39) |
I251K |
possibly damaging |
Het |
| Nfx1 |
T |
A |
4: 40,977,142 (GRCm39) |
M272K |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,442,689 (GRCm39) |
D747G |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,260,249 (GRCm39) |
R123K |
probably benign |
Het |
| Or2y1 |
A |
T |
11: 49,385,543 (GRCm39) |
Y61F |
probably benign |
Het |
| Or5p60 |
C |
A |
7: 107,724,329 (GRCm39) |
S47I |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,202 (GRCm39) |
Y278* |
probably null |
Het |
| Pcdha11 |
A |
G |
18: 37,140,441 (GRCm39) |
E690G |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,818,502 (GRCm39) |
I17N |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,858 (GRCm39) |
K477E |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,028,642 (GRCm39) |
I1377N |
probably benign |
Het |
| Polr3h |
T |
C |
15: 81,806,613 (GRCm39) |
K69E |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,641 (GRCm39) |
H280R |
possibly damaging |
Het |
| Rpp40 |
C |
A |
13: 36,086,034 (GRCm39) |
R132L |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,790,364 (GRCm39) |
Q1488* |
probably null |
Het |
| Sh3bp1 |
A |
G |
15: 78,791,421 (GRCm39) |
M403V |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,074,979 (GRCm39) |
N1517K |
possibly damaging |
Het |
| Srek1ip1 |
T |
A |
13: 104,973,981 (GRCm39) |
H129Q |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,116 (GRCm39) |
C491S |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,410 (GRCm39) |
N204I |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,862,167 (GRCm39) |
V677A |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,309 (GRCm39) |
C359S |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,774,865 (GRCm39) |
V2105G |
unknown |
Het |
| Ube2o |
A |
G |
11: 116,471,884 (GRCm39) |
V119A |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,279,308 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
A |
G |
1: 170,032,757 (GRCm39) |
V347A |
possibly damaging |
Het |
| Utp4 |
C |
T |
8: 107,649,497 (GRCm39) |
P649S |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,483,818 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,458,848 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
T |
13: 67,768,294 (GRCm39) |
R645H |
probably benign |
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 |
|
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'- CTTCCTGTAGTGTCGGGTACAG -3'
(R):5'- ATGAGAGAGGGTTCTGCCTC -3'
Sequencing Primer
(F):5'- TCGGGTACAGGGTCGGAAG -3'
(R):5'- GAGAGGGTTCTGCCTCCTTCAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation