Incidental Mutation 'R6137:Topaz1'
| ID |
488410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
044284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122747346-122802135 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122797756 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1483
(F1483S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: F1483S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: F1483S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092M07Rik |
A |
T |
19: 8,740,784 (GRCm38) |
D6V |
probably damaging |
Het |
| 2310057M21Rik |
G |
T |
7: 131,357,613 (GRCm38) |
H165Q |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,677,416 (GRCm38) |
F721Y |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,140,354 (GRCm38) |
D1517V |
probably damaging |
Het |
| Amigo3 |
T |
A |
9: 108,053,728 (GRCm38) |
S117T |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,201,411 (GRCm38) |
N34K |
probably damaging |
Het |
| Cacnb1 |
A |
C |
11: 98,005,782 (GRCm38) |
V351G |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,805,349 (GRCm38) |
|
probably null |
Het |
| Ccdc51 |
C |
T |
9: 109,089,415 (GRCm38) |
T24I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,434,512 (GRCm38) |
Y618F |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,758,688 (GRCm38) |
W1271R |
probably damaging |
Het |
| Dars |
T |
C |
1: 128,368,439 (GRCm38) |
T386A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,765,106 (GRCm38) |
D834V |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,936,381 (GRCm38) |
V933E |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,025,654 (GRCm38) |
F4203S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,130,382 (GRCm38) |
L2000P |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,008,669 (GRCm38) |
H444Q |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,276,222 (GRCm38) |
T292S |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,559,206 (GRCm38) |
S237P |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 80,615,047 (GRCm38) |
I1323T |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,653,449 (GRCm38) |
F652L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,923,458 (GRCm38) |
M142L |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,619,060 (GRCm38) |
Q503R |
possibly damaging |
Het |
| Ighv5-17 |
A |
G |
12: 113,859,295 (GRCm38) |
Y69H |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,475,582 (GRCm38) |
N242S |
probably benign |
Het |
| Immp1l |
G |
C |
2: 105,964,208 (GRCm38) |
G117A |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,894,692 (GRCm38) |
V10A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,238,426 (GRCm38) |
K679E |
possibly damaging |
Het |
| Kng1 |
T |
C |
16: 23,074,645 (GRCm38) |
V256A |
possibly damaging |
Het |
| Lamc2 |
T |
G |
1: 153,166,153 (GRCm38) |
R78S |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,598,793 (GRCm38) |
F621S |
probably damaging |
Het |
| Lpl |
T |
A |
8: 68,892,747 (GRCm38) |
D134E |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,640,494 (GRCm38) |
Y329H |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,535,886 (GRCm38) |
D225G |
probably benign |
Het |
| Myo7b |
A |
G |
18: 31,999,974 (GRCm38) |
F441L |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,336,328 (GRCm38) |
M699L |
possibly damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,191,851 (GRCm38) |
M144K |
probably damaging |
Het |
| Olfr1040 |
A |
G |
2: 86,145,969 (GRCm38) |
V255A |
probably benign |
Het |
| Olfr1347 |
T |
C |
7: 6,488,845 (GRCm38) |
T3A |
probably benign |
Het |
| Olfr325 |
A |
T |
11: 58,581,068 (GRCm38) |
M75L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,871,543 (GRCm38) |
Y667N |
probably damaging |
Het |
| Prps1l3 |
A |
G |
12: 57,238,888 (GRCm38) |
I155V |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 150,100,993 (GRCm38) |
N24K |
probably benign |
Het |
| Ralgds |
A |
T |
2: 28,547,588 (GRCm38) |
M514L |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,026,283 (GRCm38) |
R326G |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,569,005 (GRCm38) |
V254D |
probably damaging |
Het |
| Selenot |
A |
T |
3: 58,585,284 (GRCm38) |
Q64L |
probably damaging |
Het |
| Sgsm2 |
G |
A |
11: 74,850,851 (GRCm38) |
R1037W |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,542,724 (GRCm38) |
V10A |
probably benign |
Het |
| Spem2 |
G |
T |
11: 69,816,696 (GRCm38) |
S481* |
probably null |
Het |
| Styk1 |
C |
T |
6: 131,311,016 (GRCm38) |
G128D |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,776,328 (GRCm38) |
L148Q |
probably damaging |
Het |
| Tmem138 |
A |
C |
19: 10,574,835 (GRCm38) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,555,268 (GRCm38) |
V772A |
probably benign |
Het |
| Tuba4a |
C |
A |
1: 75,216,055 (GRCm38) |
C305F |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,262 (GRCm38) |
F159V |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,849,016 (GRCm38) |
I129T |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 47,856,263 (GRCm38) |
M828K |
unknown |
Het |
| Zfp236 |
A |
T |
18: 82,671,794 (GRCm38) |
S187T |
possibly damaging |
Het |
|
| Other mutations in Topaz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0083:Topaz1
|
UTSW |
9 |
122,775,609 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0098:Topaz1
|
UTSW |
9 |
122,790,123 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0098:Topaz1
|
UTSW |
9 |
122,790,123 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0108:Topaz1
|
UTSW |
9 |
122,775,609 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0220:Topaz1
|
UTSW |
9 |
122,749,303 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0519:Topaz1
|
UTSW |
9 |
122,749,479 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0617:Topaz1
|
UTSW |
9 |
122,749,906 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0637:Topaz1
|
UTSW |
9 |
122,797,662 (GRCm38) |
missense |
probably benign |
|
|
R0637:Topaz1
|
UTSW |
9 |
122,791,477 (GRCm38) |
nonsense |
probably null |
|
|
R1368:Topaz1
|
UTSW |
9 |
122,748,250 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1519:Topaz1
|
UTSW |
9 |
122,767,011 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1526:Topaz1
|
UTSW |
9 |
122,796,043 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1634:Topaz1
|
UTSW |
9 |
122,780,675 (GRCm38) |
splice site |
probably benign |
|
|
R1871:Topaz1
|
UTSW |
9 |
122,799,479 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1879:Topaz1
|
UTSW |
9 |
122,749,619 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1913:Topaz1
|
UTSW |
9 |
122,767,013 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1977:Topaz1
|
UTSW |
9 |
122,747,362 (GRCm38) |
missense |
unknown |
|
|
R1989:Topaz1
|
UTSW |
9 |
122,750,125 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2237:Topaz1
|
UTSW |
9 |
122,771,147 (GRCm38) |
missense |
probably benign |
|
|
R2238:Topaz1
|
UTSW |
9 |
122,771,147 (GRCm38) |
missense |
probably benign |
|
|
R2239:Topaz1
|
UTSW |
9 |
122,771,147 (GRCm38) |
missense |
probably benign |
|
|
R3160:Topaz1
|
UTSW |
9 |
122,749,381 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3161:Topaz1
|
UTSW |
9 |
122,749,381 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3162:Topaz1
|
UTSW |
9 |
122,749,381 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3821:Topaz1
|
UTSW |
9 |
122,797,783 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3822:Topaz1
|
UTSW |
9 |
122,797,783 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3944:Topaz1
|
UTSW |
9 |
122,750,604 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4571:Topaz1
|
UTSW |
9 |
122,747,436 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4580:Topaz1
|
UTSW |
9 |
122,747,515 (GRCm38) |
missense |
probably null |
0.00 |
|
R5043:Topaz1
|
UTSW |
9 |
122,748,404 (GRCm38) |
missense |
probably benign |
|
|
R5084:Topaz1
|
UTSW |
9 |
122,748,818 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5234:Topaz1
|
UTSW |
9 |
122,790,193 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5388:Topaz1
|
UTSW |
9 |
122,774,093 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5471:Topaz1
|
UTSW |
9 |
122,791,416 (GRCm38) |
splice site |
probably null |
|
|
R5706:Topaz1
|
UTSW |
9 |
122,799,485 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5993:Topaz1
|
UTSW |
9 |
122,749,039 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6104:Topaz1
|
UTSW |
9 |
122,749,866 (GRCm38) |
missense |
probably benign |
|
|
R6186:Topaz1
|
UTSW |
9 |
122,748,826 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6209:Topaz1
|
UTSW |
9 |
122,750,505 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6543:Topaz1
|
UTSW |
9 |
122,748,535 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6548:Topaz1
|
UTSW |
9 |
122,748,354 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6557:Topaz1
|
UTSW |
9 |
122,748,895 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6636:Topaz1
|
UTSW |
9 |
122,749,786 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6637:Topaz1
|
UTSW |
9 |
122,749,786 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6859:Topaz1
|
UTSW |
9 |
122,801,958 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7123:Topaz1
|
UTSW |
9 |
122,748,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7180:Topaz1
|
UTSW |
9 |
122,797,705 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7319:Topaz1
|
UTSW |
9 |
122,750,363 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7743:Topaz1
|
UTSW |
9 |
122,785,136 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7810:Topaz1
|
UTSW |
9 |
122,749,185 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7871:Topaz1
|
UTSW |
9 |
122,780,700 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7875:Topaz1
|
UTSW |
9 |
122,749,587 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7916:Topaz1
|
UTSW |
9 |
122,747,434 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8116:Topaz1
|
UTSW |
9 |
122,775,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8437:Topaz1
|
UTSW |
9 |
122,781,362 (GRCm38) |
nonsense |
probably null |
|
|
R8470:Topaz1
|
UTSW |
9 |
122,774,108 (GRCm38) |
missense |
probably benign |
|
|
R8487:Topaz1
|
UTSW |
9 |
122,749,936 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8493:Topaz1
|
UTSW |
9 |
122,750,508 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8919:Topaz1
|
UTSW |
9 |
122,797,865 (GRCm38) |
splice site |
probably benign |
|
|
R8922:Topaz1
|
UTSW |
9 |
122,796,036 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R9019:Topaz1
|
UTSW |
9 |
122,790,127 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9126:Topaz1
|
UTSW |
9 |
122,796,163 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9230:Topaz1
|
UTSW |
9 |
122,767,032 (GRCm38) |
missense |
probably benign |
|
|
R9302:Topaz1
|
UTSW |
9 |
122,788,822 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9408:Topaz1
|
UTSW |
9 |
122,797,663 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9469:Topaz1
|
UTSW |
9 |
122,748,520 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9487:Topaz1
|
UTSW |
9 |
122,775,642 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9557:Topaz1
|
UTSW |
9 |
122,749,465 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9564:Topaz1
|
UTSW |
9 |
122,750,154 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9726:Topaz1
|
UTSW |
9 |
122,774,870 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R9726:Topaz1
|
UTSW |
9 |
122,774,869 (GRCm38) |
critical splice donor site |
probably benign |
|
|
X0020:Topaz1
|
UTSW |
9 |
122,774,069 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
Z1176:Topaz1
|
UTSW |
9 |
122,791,494 (GRCm38) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTTCTGCAATGGAGAGAAG -3'
(R):5'- ATCTGTTCGACCACTGTCTG -3'
Sequencing Primer
(F):5'- AAGGGGCTGGGGCTACC -3'
(R):5'- GTCTGCCTCTGAATATTACCAAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation