Incidental Mutation 'R9126:Topaz1'
ID |
693261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topaz1
|
Ensembl Gene |
ENSMUSG00000094985 |
Gene Name |
testis and ovary specific PAZ domain containing 1 |
Synonyms |
Gm9524 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R9126 (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 A
at 122625228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1438
(V1438I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
AlphaFold |
E5FYH1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178679
AA Change: V1438I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000136304 Gene: ENSMUSG00000094985 AA Change: V1438I
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: 99.7%
- 20x: 99.1%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
G |
T |
3: 98,068,307 (GRCm39) |
V47L |
probably benign |
Het |
Atm |
T |
C |
9: 53,370,134 (GRCm39) |
K2323R |
probably benign |
Het |
Bbx |
A |
G |
16: 50,020,813 (GRCm39) |
L865P |
probably damaging |
Het |
C2cd3 |
T |
A |
7: 100,081,430 (GRCm39) |
I1024N |
|
Het |
Cacna1e |
A |
T |
1: 154,343,510 (GRCm39) |
C1161S |
probably benign |
Het |
Caskin2 |
A |
T |
11: 115,702,730 (GRCm39) |
V26E |
possibly damaging |
Het |
Ccnb3 |
T |
G |
X: 6,874,413 (GRCm39) |
D722A |
probably damaging |
Het |
Cep135 |
C |
A |
5: 76,781,550 (GRCm39) |
Q846K |
probably benign |
Het |
Cfap44 |
A |
T |
16: 44,295,619 (GRCm39) |
D1639V |
possibly damaging |
Het |
Cfh |
G |
T |
1: 140,014,111 (GRCm39) |
R1238S |
probably damaging |
Het |
Dctn1 |
A |
T |
6: 83,169,835 (GRCm39) |
D712V |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,424,479 (GRCm39) |
D574G |
probably damaging |
Het |
Dele1 |
A |
G |
18: 38,384,210 (GRCm39) |
T35A |
probably benign |
Het |
Dipk1b |
A |
G |
2: 26,525,989 (GRCm39) |
T308A |
probably benign |
Het |
Dlgap5 |
A |
G |
14: 47,638,989 (GRCm39) |
I443T |
probably damaging |
Het |
Dusp7 |
G |
A |
9: 106,250,966 (GRCm39) |
V364I |
|
Het |
Entpd1 |
G |
T |
19: 40,714,608 (GRCm39) |
R268L |
possibly damaging |
Het |
Fermt3 |
C |
T |
19: 6,979,745 (GRCm39) |
A463T |
probably benign |
Het |
Frat2 |
T |
C |
19: 41,836,106 (GRCm39) |
D82G |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,390,380 (GRCm39) |
I75N |
probably damaging |
Het |
Gpr171 |
T |
A |
3: 59,005,488 (GRCm39) |
I96F |
probably damaging |
Het |
Gzmb |
G |
T |
14: 56,497,845 (GRCm39) |
R132S |
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,546,608 (GRCm39) |
R132H |
probably damaging |
Het |
Hey1 |
T |
G |
3: 8,729,651 (GRCm39) |
S269R |
probably benign |
Het |
Hgf |
T |
A |
5: 16,765,979 (GRCm39) |
N38K |
possibly damaging |
Het |
Lag3 |
T |
C |
6: 124,881,809 (GRCm39) |
R467G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,583,527 (GRCm39) |
H705L |
probably damaging |
Het |
Lce3f |
T |
G |
3: 92,900,327 (GRCm39) |
S49R |
unknown |
Het |
Lrrc49 |
T |
C |
9: 60,578,594 (GRCm39) |
D250G |
probably damaging |
Het |
Lzts3 |
T |
C |
2: 130,477,248 (GRCm39) |
K400R |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,409,711 (GRCm39) |
S160P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,276,193 (GRCm39) |
T6155A |
possibly damaging |
Het |
Mboat4 |
C |
T |
8: 34,582,348 (GRCm39) |
T34I |
probably benign |
Het |
Nav3 |
T |
A |
10: 109,541,524 (GRCm39) |
Q1913L |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,800,080 (GRCm39) |
S1014P |
probably benign |
Het |
Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
Or2h1b |
T |
C |
17: 37,462,123 (GRCm39) |
T247A |
possibly damaging |
Het |
Or52z1 |
T |
G |
7: 103,437,002 (GRCm39) |
I161L |
probably benign |
Het |
Orc2 |
A |
C |
1: 58,515,628 (GRCm39) |
H293Q |
probably benign |
Het |
Otoa |
A |
G |
7: 120,693,845 (GRCm39) |
Y75C |
probably damaging |
Het |
Pate2 |
T |
A |
9: 35,581,908 (GRCm39) |
|
probably null |
Het |
Phldb3 |
G |
A |
7: 24,326,726 (GRCm39) |
V585I |
probably damaging |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Pou2f1 |
A |
T |
1: 165,722,603 (GRCm39) |
N443K |
unknown |
Het |
Prkci |
T |
A |
3: 31,072,793 (GRCm39) |
F66I |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,002,334 (GRCm39) |
Q1475* |
probably null |
Het |
Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
Reln |
T |
C |
5: 22,160,194 (GRCm39) |
D2125G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,417,136 (GRCm39) |
D1325E |
probably damaging |
Het |
Rpl36a-ps1 |
A |
T |
14: 99,231,694 (GRCm39) |
C15S |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,744 (GRCm39) |
I1658T |
probably damaging |
Het |
Serinc1 |
C |
T |
10: 57,395,577 (GRCm39) |
G370S |
probably benign |
Het |
Spef1 |
G |
T |
2: 131,013,829 (GRCm39) |
T197K |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,164,453 (GRCm39) |
Y152C |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,920,597 (GRCm39) |
V2363I |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
Star |
T |
C |
8: 26,302,832 (GRCm39) |
V258A |
probably benign |
Het |
Sympk |
T |
C |
7: 18,778,873 (GRCm39) |
I588T |
possibly damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,584 (GRCm39) |
N181S |
probably damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,724,952 (GRCm39) |
V555E |
probably benign |
Het |
Trmt112 |
T |
A |
19: 6,887,786 (GRCm39) |
M45K |
|
Het |
Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
Ulk4 |
G |
T |
9: 121,090,988 (GRCm39) |
P238Q |
probably damaging |
Het |
Unc5a |
T |
C |
13: 55,145,774 (GRCm39) |
L312P |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,566,290 (GRCm39) |
D1499G |
possibly damaging |
Het |
Ushbp1 |
A |
G |
8: 71,843,653 (GRCm39) |
S262P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,008 (GRCm39) |
R81K |
probably benign |
Het |
Vmn2r5 |
G |
A |
3: 64,399,159 (GRCm39) |
P607S |
probably benign |
Het |
Vtn |
G |
T |
11: 78,391,256 (GRCm39) |
G223V |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,394,589 (GRCm39) |
V1061A |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
Zfp616 |
T |
A |
11: 73,976,280 (GRCm39) |
C850S |
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 |
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 |
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'- AAGTGTCATTGTCATGGTATGC -3'
(R):5'- GATGGAGAAATGTCTTAACTGGC -3'
Sequencing Primer
(F):5'- GGATGTGCTTAATCGGCAT -3'
(R):5'- CTATAGAGGACCTGGGCTCAGTTC -3'
|
Posted On |
2022-01-20 |