Incidental Mutation 'R8487:Topaz1'
| ID |
657798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topaz1
|
| Ensembl Gene |
ENSMUSG00000094985 |
| Gene Name |
testis and ovary specific PAZ domain containing 1 |
| Synonyms |
Gm9524 |
| MMRRC Submission |
067930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R8487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122576411-122631200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122579001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 637
(D637G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178679]
|
| AlphaFold |
E5FYH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178679
AA Change: D637G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: D637G
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,565,122 (GRCm39) |
I153V |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,886,116 (GRCm39) |
S354A |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,896,516 (GRCm39) |
T727A |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,747,692 (GRCm39) |
G137E |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,970,419 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,886,808 (GRCm39) |
K267* |
probably null |
Het |
| Ccdc47 |
C |
A |
11: 106,092,971 (GRCm39) |
V92L |
possibly damaging |
Het |
| Cyp2c54 |
A |
T |
19: 40,059,990 (GRCm39) |
I181N |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,427,184 (GRCm39) |
D753V |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 91,935,796 (GRCm39) |
K641N |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,736,668 (GRCm39) |
R527C |
probably benign |
Het |
| Fancd2 |
C |
T |
6: 113,545,187 (GRCm39) |
P835L |
probably damaging |
Het |
| Fbln2 |
C |
G |
6: 91,227,846 (GRCm39) |
T428S |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,153,462 (GRCm39) |
A2600V |
possibly damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,876 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,268,508 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
A |
17: 35,191,033 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,839 (GRCm39) |
P107S |
probably damaging |
Het |
| Kif6 |
A |
G |
17: 49,978,164 (GRCm39) |
I119V |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 140,790,427 (GRCm39) |
H554Y |
probably benign |
Het |
| Lrrc8e |
C |
A |
8: 4,284,218 (GRCm39) |
H148N |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,914 (GRCm39) |
N613D |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,028,136 (GRCm39) |
T319M |
probably damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,268,413 (GRCm39) |
V253I |
probably damaging |
Het |
| Mcm4 |
C |
A |
16: 15,450,042 (GRCm39) |
C330F |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,776,341 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,577,321 (GRCm39) |
C49R |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,983 (GRCm39) |
V490A |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,819,584 (GRCm39) |
F27I |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,696 (GRCm39) |
L269Q |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,647 (GRCm39) |
S26G |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,609 (GRCm39) |
N227D |
probably benign |
Het |
| Or5p73 |
G |
T |
7: 108,064,784 (GRCm39) |
M84I |
possibly damaging |
Het |
| Or6c66 |
A |
G |
10: 129,461,114 (GRCm39) |
I272T |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,206,968 (GRCm39) |
M1V |
probably null |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,631 (GRCm39) |
T488A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,864,909 (GRCm39) |
D99G |
possibly damaging |
Het |
| Polr3h |
T |
C |
15: 81,800,824 (GRCm39) |
T173A |
probably benign |
Het |
| Pramel6 |
C |
T |
2: 87,339,045 (GRCm39) |
L82F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,463 (GRCm39) |
I1034N |
probably damaging |
Het |
| Rbfox1 |
G |
A |
16: 7,042,319 (GRCm39) |
V58I |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,104,027 (GRCm39) |
I3315L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,844 (GRCm39) |
S321T |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,740,292 (GRCm39) |
T3908A |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,617,502 (GRCm39) |
Y58* |
probably null |
Het |
| Sgms1 |
C |
A |
19: 32,102,697 (GRCm39) |
V337L |
probably benign |
Het |
| Slc38a2 |
G |
A |
15: 96,593,172 (GRCm39) |
Q136* |
probably null |
Het |
| Smarcd1 |
T |
A |
15: 99,605,657 (GRCm39) |
V296D |
probably damaging |
Het |
| Smcr8 |
A |
C |
11: 60,674,822 (GRCm39) |
H866P |
probably damaging |
Het |
| Spcs1 |
T |
A |
14: 30,722,721 (GRCm39) |
I33L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,688,033 (GRCm39) |
R423G |
possibly damaging |
Het |
| Syt4 |
A |
T |
18: 31,576,790 (GRCm39) |
M188K |
possibly damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,376,869 (GRCm39) |
D22G |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,453,655 (GRCm39) |
N134K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
T |
14: 53,316,192 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,166 (GRCm39) |
M240L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,514 (GRCm39) |
S29T |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,817 (GRCm39) |
F1253L |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,580,895 (GRCm39) |
R73* |
probably null |
Het |
| Zfp446 |
T |
A |
7: 12,716,555 (GRCm39) |
F334I |
possibly damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,011 (GRCm39) |
Y730* |
probably null |
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 |
|
|
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'- TTTCTAATGCAACTGAAGACACCC -3'
(R):5'- AAGACTGTGGTCCTGAAGTTG -3'
Sequencing Primer
(F):5'- TGCAACTGAAGACACCCAGTTAAG -3'
(R):5'- AAGACTGTGGTCCTGAAGTTGTACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation