Incidental Mutation 'R0637:Topaz1'
ID |
56759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topaz1
|
Ensembl Gene |
ENSMUSG00000094985 |
Gene Name |
testis and ovary specific PAZ domain containing 1 |
Synonyms |
Gm9524 |
MMRRC Submission |
038826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R0637 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 122620542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 1320
(L1320*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
AlphaFold |
E5FYH1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000178679
AA Change: L1320*
|
SMART Domains |
Protein: ENSMUSP00000136304 Gene: ENSMUSG00000094985 AA Change: L1320*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
Validation Efficiency |
100% (68/68) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
Atrip |
C |
T |
9: 108,890,241 (GRCm39) |
M143I |
possibly damaging |
Het |
Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
D630003M21Rik |
T |
G |
2: 158,037,327 (GRCm39) |
|
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,050,880 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
T |
A |
11: 87,668,066 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
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 |
|
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'- TTGGTGGGACAGGTTGTCAACAC -3'
(R):5'- TGGCCTCCAGAATTCGATAGAGCAG -3'
Sequencing Primer
(F):5'- ACAGGTTGTCAACACTGGGTC -3'
(R):5'- AGCAGTTGGTGTCTCGTCAC -3'
|
Posted On |
2013-07-11 |