Incidental Mutation 'R4580:Topaz1'
ID |
343603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topaz1
|
Ensembl Gene |
ENSMUSG00000094985 |
Gene Name |
testis and ovary specific PAZ domain containing 1 |
Synonyms |
Gm9524 |
MMRRC Submission |
041599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R4580 (G1)
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122576580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 57
(M57K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
AlphaFold |
E5FYH1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000178679
AA Change: M57K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000136304 Gene: ENSMUSG00000094985 AA Change: M57K
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
T |
C |
11: 69,791,237 (GRCm39) |
Y114C |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,799,558 (GRCm39) |
S556P |
probably damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,269 (GRCm39) |
N91D |
probably benign |
Het |
BC005537 |
G |
T |
13: 24,987,394 (GRCm39) |
A11S |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,084,174 (GRCm39) |
T3864S |
probably benign |
Het |
Bub1 |
A |
C |
2: 127,671,596 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
Cdh15 |
T |
C |
8: 123,591,897 (GRCm39) |
L594P |
probably damaging |
Het |
Cobll1 |
C |
T |
2: 64,981,417 (GRCm39) |
V90I |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,271,875 (GRCm39) |
V463A |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,877,757 (GRCm39) |
|
probably null |
Het |
Creb5 |
G |
A |
6: 53,581,519 (GRCm39) |
M172I |
possibly damaging |
Het |
Cyp4a32 |
T |
C |
4: 115,460,126 (GRCm39) |
|
silent |
Het |
Dnah8 |
T |
A |
17: 30,881,026 (GRCm39) |
S588T |
probably benign |
Het |
Ecpas |
T |
C |
4: 58,840,751 (GRCm39) |
Y669C |
probably damaging |
Het |
Esd |
T |
C |
14: 74,979,517 (GRCm39) |
V120A |
possibly damaging |
Het |
Fbxo5 |
T |
C |
10: 5,755,255 (GRCm39) |
|
probably null |
Het |
Gm4922 |
T |
C |
10: 18,659,432 (GRCm39) |
D430G |
probably benign |
Het |
Golga4 |
C |
A |
9: 118,386,327 (GRCm39) |
Q1150K |
probably benign |
Het |
Grb14 |
T |
C |
2: 64,783,947 (GRCm39) |
N60S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,818,325 (GRCm39) |
N2S |
probably damaging |
Het |
Henmt1 |
T |
A |
3: 108,850,081 (GRCm39) |
S21R |
probably benign |
Het |
Ifngr2 |
A |
G |
16: 91,354,906 (GRCm39) |
K113E |
probably benign |
Het |
Ighv15-2 |
T |
A |
12: 114,528,590 (GRCm39) |
T15S |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,395,287 (GRCm39) |
S529P |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,200,957 (GRCm39) |
N51S |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,599 (GRCm39) |
E773G |
possibly damaging |
Het |
Lrfn3 |
A |
T |
7: 30,059,467 (GRCm39) |
C253S |
probably damaging |
Het |
Maea |
T |
C |
5: 33,517,832 (GRCm39) |
V130A |
possibly damaging |
Het |
Marchf11 |
A |
T |
15: 26,311,189 (GRCm39) |
I222F |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,873,766 (GRCm39) |
Y1699* |
probably null |
Het |
Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
Mpzl3 |
T |
A |
9: 44,979,529 (GRCm39) |
V160E |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,885,388 (GRCm39) |
S88P |
possibly damaging |
Het |
Myl2 |
A |
T |
5: 122,244,801 (GRCm39) |
H157L |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,767,779 (GRCm39) |
N284S |
probably damaging |
Het |
Nphp1 |
A |
G |
2: 127,610,089 (GRCm39) |
|
probably null |
Het |
Nrcam |
T |
C |
12: 44,609,323 (GRCm39) |
|
probably null |
Het |
Nt5c3b |
G |
T |
11: 100,323,885 (GRCm39) |
F134L |
probably damaging |
Het |
Or4c120 |
T |
A |
2: 89,001,544 (GRCm39) |
Q4L |
probably benign |
Het |
Otog |
A |
G |
7: 45,937,225 (GRCm39) |
R1645G |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,249,830 (GRCm39) |
I523M |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,475,188 (GRCm39) |
L108Q |
probably damaging |
Het |
Pdp2 |
C |
A |
8: 105,321,576 (GRCm39) |
T475K |
probably damaging |
Het |
Pgbd1 |
G |
C |
13: 21,612,499 (GRCm39) |
P113A |
probably benign |
Het |
Plk5 |
C |
T |
10: 80,196,301 (GRCm39) |
H291Y |
possibly damaging |
Het |
Pmpca |
G |
T |
2: 26,283,347 (GRCm39) |
S382I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,433,450 (GRCm39) |
T202A |
possibly damaging |
Het |
Ptgs2 |
A |
T |
1: 149,979,845 (GRCm39) |
T317S |
possibly damaging |
Het |
Ptprc |
C |
T |
1: 137,998,989 (GRCm39) |
M1020I |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,244,471 (GRCm39) |
Y393H |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,717 (GRCm39) |
L482P |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,403,311 (GRCm39) |
T1984I |
probably benign |
Het |
Slc17a1 |
T |
C |
13: 24,071,960 (GRCm39) |
Y393H |
probably damaging |
Het |
Slc9a3 |
C |
T |
13: 74,307,005 (GRCm39) |
R377* |
probably null |
Het |
Slitrk3 |
A |
G |
3: 72,958,539 (GRCm39) |
S78P |
probably damaging |
Het |
Smim35 |
G |
T |
9: 45,155,426 (GRCm39) |
|
probably null |
Het |
Specc1 |
T |
A |
11: 62,110,157 (GRCm39) |
V1054E |
probably damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,696,219 (GRCm39) |
T847A |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,907,468 (GRCm39) |
G343R |
probably damaging |
Het |
Tex36 |
A |
C |
7: 133,189,111 (GRCm39) |
Y154D |
possibly damaging |
Het |
Trav6-4 |
T |
C |
14: 53,692,156 (GRCm39) |
Y85H |
probably damaging |
Het |
Trim30d |
A |
G |
7: 104,121,765 (GRCm39) |
Y327H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,781,740 (GRCm39) |
V1056A |
probably benign |
Het |
Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
Vmn1r59 |
A |
T |
7: 5,457,136 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,799,982 (GRCm39) |
T787A |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,169,814 (GRCm39) |
I246N |
probably benign |
Het |
Xab2 |
T |
C |
8: 3,660,162 (GRCm39) |
D855G |
probably damaging |
Het |
Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,991,265 (GRCm39) |
C758S |
possibly damaging |
Het |
Zfp62 |
A |
G |
11: 49,107,099 (GRCm39) |
I397V |
possibly damaging |
Het |
Zscan4d |
A |
G |
7: 10,896,435 (GRCm39) |
S312P |
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 |
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'- CTTCCTGTAGTGTCGGGTACAG -3'
(R):5'- GACCACCAGCTTCCTTACTG -3'
Sequencing Primer
(F):5'- AGTAGCCTGTGTCCTGCAG -3'
(R):5'- CCTTACTGCGTCTTCTGGGATGAG -3'
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Posted On |
2015-09-24 |