Incidental Mutation 'R5084:Topaz1'
| ID |
387321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
042673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R5084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122577883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 264
(H264Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
AA Change: H264Q
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: H264Q
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,204,116 (GRCm39) |
E59D |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,155,640 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
A |
7: 79,476,618 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
A |
9: 105,274,886 (GRCm39) |
Y314* |
probably null |
Het |
| Ccdc183 |
G |
A |
2: 25,498,802 (GRCm39) |
T497I |
probably damaging |
Het |
| Cd4 |
A |
T |
6: 124,847,402 (GRCm39) |
I254N |
probably damaging |
Het |
| Crot |
G |
T |
5: 9,019,994 (GRCm39) |
H449Q |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,418,214 (GRCm39) |
W164R |
possibly damaging |
Het |
| Dapk3 |
C |
A |
10: 81,026,152 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
G |
A |
5: 110,527,272 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
C |
3: 93,184,922 (GRCm39) |
F15L |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,252,686 (GRCm39) |
D51G |
probably damaging |
Het |
| H2-Ob |
G |
T |
17: 34,460,102 (GRCm39) |
G71V |
probably damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,161,520 (GRCm39) |
V104A |
possibly damaging |
Het |
| Hs3st4 |
G |
T |
7: 123,996,518 (GRCm39) |
D395Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Ldlrad3 |
G |
A |
2: 101,900,329 (GRCm39) |
R58C |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,626,983 (GRCm39) |
S188P |
probably damaging |
Het |
| Mamdc2 |
G |
T |
19: 23,336,516 (GRCm39) |
T331K |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,715,135 (GRCm39) |
S195N |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,577,176 (GRCm39) |
Y390H |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,376,864 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
C |
3: 114,698,202 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
G |
4: 118,686,767 (GRCm39) |
V290A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,594 (GRCm39) |
L249P |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,436 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,551 (GRCm39) |
I228F |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,819 (GRCm39) |
V527A |
probably benign |
Het |
| Pcdha6 |
A |
T |
18: 37,102,016 (GRCm39) |
N403I |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,710,848 (GRCm39) |
E1458G |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,610,569 (GRCm39) |
T386M |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,004 (GRCm39) |
M272V |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,571 (GRCm39) |
E163G |
probably damaging |
Het |
| Plk5 |
C |
A |
10: 80,194,723 (GRCm39) |
R149S |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,933 (GRCm39) |
Y292F |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,860,332 (GRCm39) |
K272E |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,841,759 (GRCm39) |
T942M |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,572,059 (GRCm39) |
L777P |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,185 (GRCm39) |
Y438H |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,887,673 (GRCm39) |
K2052R |
probably benign |
Het |
| Spata31d1c |
C |
A |
13: 65,182,944 (GRCm39) |
P162Q |
probably damaging |
Het |
| Spmip9 |
A |
G |
6: 70,892,688 (GRCm39) |
S20P |
possibly damaging |
Het |
| Ston1 |
A |
T |
17: 88,944,002 (GRCm39) |
E469D |
probably benign |
Het |
| Syde2 |
AGTTC |
AGTTCGTTC |
3: 145,707,164 (GRCm39) |
|
probably null |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Taar5 |
T |
A |
10: 23,846,836 (GRCm39) |
L78Q |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,251 (GRCm39) |
L259* |
probably null |
Het |
| Vcl |
G |
T |
14: 21,059,027 (GRCm39) |
V548L |
possibly damaging |
Het |
| Vmn2r57 |
C |
A |
7: 41,075,974 (GRCm39) |
|
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,439 (GRCm39) |
*861W |
probably null |
Het |
| Ylpm1 |
T |
G |
12: 85,076,095 (GRCm39) |
V940G |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,627,556 (GRCm39) |
S1500P |
probably damaging |
Het |
| Zfp384 |
G |
T |
6: 125,000,642 (GRCm39) |
|
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,953 (GRCm39) |
M662V |
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 |
|
|
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'- TAACAGCTTATCACCTGGAGTAG -3'
(R):5'- GGTTTTCTTGTAACACCAACACAG -3'
Sequencing Primer
(F):5'- GCAGCTTTGAATTGCATGATTACAG -3'
(R):5'- TCTTGTAACACCAACACAGAATTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation