Incidental Mutation 'R0519:Topaz1'
ID |
48403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topaz1
|
Ensembl Gene |
ENSMUSG00000094985 |
Gene Name |
testis and ovary specific PAZ domain containing 1 |
Synonyms |
Gm9524 |
MMRRC Submission |
038712-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R0519 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 122578544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 485
(L485I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
AlphaFold |
E5FYH1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: L485I
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136304 Gene: ENSMUSG00000094985 AA Change: L485I
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
|
Meta Mutation Damage Score |
0.1184 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (74/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,696,067 (GRCm39) |
R168G |
probably benign |
Het |
2810004N23Rik |
C |
T |
8: 125,566,668 (GRCm39) |
G251R |
possibly damaging |
Het |
3425401B19Rik |
A |
G |
14: 32,384,919 (GRCm39) |
S349P |
possibly damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,650 (GRCm39) |
V99A |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Asxl3 |
A |
G |
18: 22,656,577 (GRCm39) |
Q1529R |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,477 (GRCm39) |
E46G |
probably benign |
Het |
Cdcp2 |
A |
G |
4: 106,964,389 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,318,089 (GRCm39) |
|
probably benign |
Het |
Clip2 |
A |
G |
5: 134,545,005 (GRCm39) |
V383A |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,290 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Csmd2 |
A |
C |
4: 128,380,798 (GRCm39) |
Y2118S |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,613,244 (GRCm39) |
V415E |
probably damaging |
Het |
Dpy19l2 |
C |
T |
9: 24,469,391 (GRCm39) |
R755Q |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,840,633 (GRCm39) |
|
probably benign |
Het |
Dtd2 |
T |
C |
12: 52,051,742 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 6,027,399 (GRCm39) |
T602A |
probably benign |
Het |
Ercc6 |
A |
C |
14: 32,248,799 (GRCm39) |
D450A |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 28,008,380 (GRCm39) |
V104D |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,888,870 (GRCm39) |
|
probably null |
Het |
Gcgr |
G |
T |
11: 120,426,982 (GRCm39) |
W88L |
probably damaging |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
G |
13: 89,732,835 (GRCm39) |
|
probably benign |
Het |
Hmgn3 |
T |
C |
9: 82,994,301 (GRCm39) |
E40G |
probably damaging |
Het |
Hsdl1 |
G |
A |
8: 120,292,450 (GRCm39) |
A255V |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,499 (GRCm39) |
K306E |
probably damaging |
Het |
Jcad |
C |
T |
18: 4,649,122 (GRCm39) |
|
probably benign |
Het |
Kif14 |
C |
A |
1: 136,396,885 (GRCm39) |
A397E |
probably damaging |
Het |
Lcmt2 |
A |
T |
2: 120,969,825 (GRCm39) |
|
probably null |
Het |
Lifr |
T |
C |
15: 7,207,061 (GRCm39) |
L524P |
probably damaging |
Het |
Ly6g6f |
T |
C |
17: 35,301,828 (GRCm39) |
K209E |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,365,113 (GRCm39) |
T1651I |
probably benign |
Het |
Mapk4 |
T |
C |
18: 74,103,392 (GRCm39) |
D39G |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,522 (GRCm39) |
M137V |
probably damaging |
Het |
Mcm10 |
G |
A |
2: 5,013,356 (GRCm39) |
S92L |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,828,383 (GRCm39) |
K265R |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,701,612 (GRCm39) |
|
probably null |
Het |
Neu3 |
G |
A |
7: 99,472,524 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,460,648 (GRCm39) |
T2395A |
probably benign |
Het |
Or1j1 |
T |
A |
2: 36,702,627 (GRCm39) |
H159L |
probably damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,411 (GRCm39) |
Y195F |
probably benign |
Het |
Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
Or7g34 |
A |
T |
9: 19,478,245 (GRCm39) |
I145N |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,255 (GRCm39) |
V327A |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,649,085 (GRCm39) |
V738A |
possibly damaging |
Het |
Plekha8 |
A |
T |
6: 54,599,092 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
C |
10: 107,374,781 (GRCm39) |
|
probably benign |
Het |
Pus10 |
T |
A |
11: 23,661,201 (GRCm39) |
F263Y |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,599,809 (GRCm39) |
I338F |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,585,498 (GRCm39) |
F756L |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,619,185 (GRCm39) |
L719P |
probably damaging |
Het |
Slc2a2 |
G |
A |
3: 28,772,965 (GRCm39) |
V253I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,499,338 (GRCm39) |
N192K |
probably benign |
Het |
Soat1 |
T |
A |
1: 156,268,816 (GRCm39) |
I245F |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,188,534 (GRCm39) |
A858V |
probably benign |
Het |
Tcim |
T |
C |
8: 24,928,651 (GRCm39) |
T88A |
possibly damaging |
Het |
Tecta |
G |
A |
9: 42,259,188 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
C |
A |
2: 120,879,376 (GRCm39) |
L553F |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
Tmem214 |
A |
C |
5: 31,027,012 (GRCm39) |
M1L |
probably null |
Het |
Togaram1 |
T |
C |
12: 65,012,776 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,548,626 (GRCm39) |
|
probably benign |
Het |
Ube2o |
A |
G |
11: 116,437,285 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,734,465 (GRCm39) |
D246E |
probably benign |
Het |
Vcpkmt |
T |
C |
12: 69,629,102 (GRCm39) |
D132G |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,792,102 (GRCm39) |
Q51H |
probably benign |
Het |
Vmn2r95 |
C |
T |
17: 18,659,765 (GRCm39) |
P170S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,567,826 (GRCm39) |
I1086T |
probably damaging |
Het |
Zfp444 |
G |
A |
7: 6,191,172 (GRCm39) |
A118T |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,737,372 (GRCm39) |
I272T |
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 |
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 |
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'- ATAATACACTCCCTCCGGTGGACC -3'
(R):5'- TTCCTGGCTCTCTTGGGATGCAAC -3'
Sequencing Primer
(F):5'- TGTGTCTCCCCAAAACAGTGG -3'
(R):5'- CAGTTGCATTAGAAACTACCTCTGC -3'
|
Posted On |
2013-06-12 |