Incidental Mutation 'R7903:Tdrd9'
| ID |
610105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
045955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R7903 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112018410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1276
(D1276E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079009
AA Change: D1276E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: D1276E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
DEXDc
|
132 |
327 |
5.64e-21 |
SMART |
|
HELICc
|
404 |
502 |
3.22e-16 |
SMART |
|
low complexity region
|
547 |
561 |
N/A |
INTRINSIC |
|
HA2
|
565 |
666 |
1.9e-20 |
SMART |
|
TUDOR
|
944 |
1003 |
1.52e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192125
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
PHENOTYPE: Male homozygous mice are sterile, displaying small testis, arrest of male meiosis and abnormal spermatocyte morphology. Females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
T |
C |
18: 24,608,783 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
T |
7: 119,195,215 (GRCm39) |
T596S |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,492,966 (GRCm39) |
K548E |
probably damaging |
Het |
| Anapc15 |
T |
G |
7: 101,547,193 (GRCm39) |
V23G |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,308,570 (GRCm39) |
L123P |
probably damaging |
Het |
| Brf2 |
G |
A |
8: 27,616,121 (GRCm39) |
T88M |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc14 |
A |
T |
16: 34,525,280 (GRCm39) |
H191L |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,363,499 (GRCm39) |
V453E |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,458,843 (GRCm39) |
K1110E |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,473,680 (GRCm39) |
D421G |
probably damaging |
Het |
| D130043K22Rik |
T |
G |
13: 25,059,995 (GRCm39) |
V622G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,641,351 (GRCm39) |
S1190P |
probably damaging |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,212 (GRCm39) |
T30A |
probably benign |
Het |
| Elavl1 |
T |
C |
8: 4,351,756 (GRCm39) |
K120R |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,581,332 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
G |
A |
3: 151,920,498 (GRCm39) |
W79* |
probably null |
Het |
| Gsto2 |
T |
A |
19: 47,873,096 (GRCm39) |
I157N |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,108,272 (GRCm39) |
D735G |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,967 (GRCm39) |
I166F |
probably damaging |
Het |
| Hars2 |
C |
A |
18: 36,919,245 (GRCm39) |
R128S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,834,500 (GRCm39) |
F496S |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,578,988 (GRCm39) |
V1256A |
unknown |
Het |
| Kif19b |
T |
C |
5: 140,461,767 (GRCm39) |
V523A |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,932,321 (GRCm39) |
M1K |
probably null |
Het |
| Lamtor2 |
T |
C |
3: 88,459,817 (GRCm39) |
N26D |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,382 (GRCm39) |
T799A |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 5,000,613 (GRCm39) |
T693A |
probably benign |
Het |
| Mgarp |
G |
T |
3: 51,304,119 (GRCm39) |
A10E |
|
Het |
| Mns1 |
A |
T |
9: 72,360,093 (GRCm39) |
E414D |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,265 (GRCm39) |
S341G |
probably null |
Het |
| Nags |
A |
T |
11: 102,037,503 (GRCm39) |
D198V |
possibly damaging |
Het |
| Nedd4l |
C |
T |
18: 65,319,438 (GRCm39) |
P464S |
probably damaging |
Het |
| Nicol1 |
T |
A |
5: 34,140,910 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
C |
2: 151,338,522 (GRCm39) |
Y42H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,942 (GRCm39) |
M67V |
probably benign |
Het |
| Or2b28 |
T |
A |
13: 21,532,046 (GRCm39) |
I316K |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,549,847 (GRCm39) |
L715Q |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,828,019 (GRCm39) |
N64Y |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,744 (GRCm39) |
F673L |
probably damaging |
Het |
| Pla2g7 |
A |
G |
17: 43,911,512 (GRCm39) |
|
probably null |
Het |
| Pml |
T |
C |
9: 58,156,867 (GRCm39) |
E36G |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,503 (GRCm39) |
S795* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,731,960 (GRCm39) |
K1016* |
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,042,375 (GRCm39) |
S76R |
probably benign |
Het |
| Reck |
A |
T |
4: 43,927,166 (GRCm39) |
I486F |
possibly damaging |
Het |
| Rnf103 |
A |
T |
6: 71,486,138 (GRCm39) |
K256N |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,446,905 (GRCm39) |
N713I |
|
Het |
| Slc38a4 |
C |
T |
15: 96,906,809 (GRCm39) |
G310S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,393,145 (GRCm39) |
R218H |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,611,366 (GRCm39) |
H344R |
probably damaging |
Het |
| Smarcc1 |
G |
A |
9: 110,033,334 (GRCm39) |
E810K |
probably benign |
Het |
| Sord |
T |
A |
2: 122,093,706 (GRCm39) |
M275K |
probably benign |
Het |
| Spire2 |
C |
A |
8: 124,095,489 (GRCm39) |
P631T |
probably benign |
Het |
| Sult6b1 |
T |
C |
17: 79,198,279 (GRCm39) |
K207R |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,543 (GRCm39) |
D498E |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,121,365 (GRCm39) |
F219S |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,199 (GRCm39) |
G496D |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,165,060 (GRCm39) |
H600Y |
probably benign |
Het |
| Vmn1r224 |
A |
T |
17: 20,640,309 (GRCm39) |
L295F |
probably benign |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,135 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,763 (GRCm39) |
R110H |
probably damaging |
Het |
| Wbp2nl |
C |
T |
15: 82,190,332 (GRCm39) |
Q87* |
probably null |
Het |
|
| Other mutations in Tdrd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Tdrd9
|
APN |
12 |
112,006,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Tdrd9
|
APN |
12 |
112,006,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Tdrd9
|
APN |
12 |
112,013,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02967:Tdrd9
|
APN |
12 |
111,958,922 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03063:Tdrd9
|
APN |
12 |
112,010,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03107:Tdrd9
|
APN |
12 |
112,009,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0433:Tdrd9
|
UTSW |
12 |
111,992,015 (GRCm39) |
nonsense |
probably null |
|
|
R0453:Tdrd9
|
UTSW |
12 |
112,034,673 (GRCm39) |
missense |
probably benign |
|
|
R0655:Tdrd9
|
UTSW |
12 |
112,006,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Tdrd9
|
UTSW |
12 |
111,974,014 (GRCm39) |
intron |
probably benign |
|
|
R1073:Tdrd9
|
UTSW |
12 |
111,989,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1280:Tdrd9
|
UTSW |
12 |
112,005,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Tdrd9
|
UTSW |
12 |
112,011,238 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1521:Tdrd9
|
UTSW |
12 |
112,002,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Tdrd9
|
UTSW |
12 |
111,989,687 (GRCm39) |
nonsense |
probably null |
|
|
R1651:Tdrd9
|
UTSW |
12 |
111,991,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1715:Tdrd9
|
UTSW |
12 |
112,002,873 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1854:Tdrd9
|
UTSW |
12 |
112,011,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Tdrd9
|
UTSW |
12 |
112,030,061 (GRCm39) |
splice site |
probably benign |
|
|
R2386:Tdrd9
|
UTSW |
12 |
111,982,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Tdrd9
|
UTSW |
12 |
111,997,695 (GRCm39) |
missense |
probably benign |
|
|
R2915:Tdrd9
|
UTSW |
12 |
112,006,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Tdrd9
|
UTSW |
12 |
112,008,106 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4033:Tdrd9
|
UTSW |
12 |
111,958,973 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4087:Tdrd9
|
UTSW |
12 |
111,979,920 (GRCm39) |
nonsense |
probably null |
|
|
R4237:Tdrd9
|
UTSW |
12 |
112,034,059 (GRCm39) |
nonsense |
probably null |
|
|
R4482:Tdrd9
|
UTSW |
12 |
111,980,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4501:Tdrd9
|
UTSW |
12 |
112,009,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4502:Tdrd9
|
UTSW |
12 |
111,960,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Tdrd9
|
UTSW |
12 |
112,008,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4803:Tdrd9
|
UTSW |
12 |
111,963,269 (GRCm39) |
nonsense |
probably null |
|
|
R5218:Tdrd9
|
UTSW |
12 |
112,029,909 (GRCm39) |
intron |
probably benign |
|
|
R5275:Tdrd9
|
UTSW |
12 |
112,018,346 (GRCm39) |
nonsense |
probably null |
|
|
R5295:Tdrd9
|
UTSW |
12 |
112,018,346 (GRCm39) |
nonsense |
probably null |
|
|
R5301:Tdrd9
|
UTSW |
12 |
112,002,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5339:Tdrd9
|
UTSW |
12 |
111,993,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Tdrd9
|
UTSW |
12 |
111,989,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5573:Tdrd9
|
UTSW |
12 |
111,964,336 (GRCm39) |
splice site |
probably null |
|
|
R5590:Tdrd9
|
UTSW |
12 |
112,018,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:Tdrd9
|
UTSW |
12 |
112,009,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Tdrd9
|
UTSW |
12 |
111,951,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Tdrd9
|
UTSW |
12 |
111,979,720 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6125:Tdrd9
|
UTSW |
12 |
112,034,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6254:Tdrd9
|
UTSW |
12 |
111,992,334 (GRCm39) |
splice site |
probably null |
|
|
R6335:Tdrd9
|
UTSW |
12 |
112,008,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Tdrd9
|
UTSW |
12 |
112,001,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6792:Tdrd9
|
UTSW |
12 |
111,993,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6956:Tdrd9
|
UTSW |
12 |
112,002,788 (GRCm39) |
splice site |
probably benign |
|
|
R6987:Tdrd9
|
UTSW |
12 |
111,992,027 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7090:Tdrd9
|
UTSW |
12 |
111,958,904 (GRCm39) |
missense |
probably benign |
|
|
R7158:Tdrd9
|
UTSW |
12 |
112,002,800 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7220:Tdrd9
|
UTSW |
12 |
111,980,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Tdrd9
|
UTSW |
12 |
111,951,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Tdrd9
|
UTSW |
12 |
112,034,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7751:Tdrd9
|
UTSW |
12 |
111,958,982 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7809:Tdrd9
|
UTSW |
12 |
111,999,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7844:Tdrd9
|
UTSW |
12 |
111,964,386 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7854:Tdrd9
|
UTSW |
12 |
112,013,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7938:Tdrd9
|
UTSW |
12 |
111,997,649 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8018:Tdrd9
|
UTSW |
12 |
112,010,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8018:Tdrd9
|
UTSW |
12 |
111,999,180 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8090:Tdrd9
|
UTSW |
12 |
111,982,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Tdrd9
|
UTSW |
12 |
111,951,500 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8198:Tdrd9
|
UTSW |
12 |
112,006,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Tdrd9
|
UTSW |
12 |
111,992,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Tdrd9
|
UTSW |
12 |
112,012,627 (GRCm39) |
missense |
probably benign |
|
|
R8721:Tdrd9
|
UTSW |
12 |
112,002,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Tdrd9
|
UTSW |
12 |
111,979,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8892:Tdrd9
|
UTSW |
12 |
111,979,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9276:Tdrd9
|
UTSW |
12 |
111,980,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9459:Tdrd9
|
UTSW |
12 |
111,992,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Tdrd9
|
UTSW |
12 |
112,012,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9657:Tdrd9
|
UTSW |
12 |
112,002,824 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9745:Tdrd9
|
UTSW |
12 |
112,009,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Tdrd9
|
UTSW |
12 |
112,005,763 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,982,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,960,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Tdrd9
|
UTSW |
12 |
111,938,088 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTAGTTACGGTACTGGTGC -3'
(R):5'- AGCACTGTGGAACAAACCGG -3'
Sequencing Primer
(F):5'- TACTGGTGCTAGGAAAACACC -3'
(R):5'- AACCGGCTAAGGAGTGGTCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation