Incidental Mutation 'R7854:Tdrd9'
| ID |
607147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdrd9
|
| Ensembl Gene |
ENSMUSG00000054003 |
| Gene Name |
tudor domain containing 9 |
| Synonyms |
4930441E05Rik |
| MMRRC Submission |
045907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R7854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111937993-112035288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112013395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1210
(T1210A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079009]
|
| AlphaFold |
Q14BI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079009
AA Change: T1210A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: T1210A
| 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: 99.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,741,207 (GRCm39) |
I86F |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,727,564 (GRCm39) |
*953W |
probably null |
Het |
| Ap1g2 |
A |
G |
14: 55,343,390 (GRCm39) |
F66L |
probably damaging |
Het |
| Aqp12 |
T |
G |
1: 92,934,176 (GRCm39) |
C18G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,490,523 (GRCm39) |
I826V |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,494,700 (GRCm39) |
Q321R |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,627,991 (GRCm39) |
I48V |
possibly damaging |
Het |
| Cep63 |
A |
T |
9: 102,480,197 (GRCm39) |
S269R |
probably damaging |
Het |
| Chchd7 |
T |
C |
4: 3,943,422 (GRCm39) |
V63A |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,969,964 (GRCm39) |
D163G |
probably benign |
Het |
| Dpep2 |
T |
C |
8: 106,716,160 (GRCm39) |
D251G |
|
Het |
| Ercc6 |
T |
C |
14: 32,288,249 (GRCm39) |
L807P |
probably damaging |
Het |
| Fads6 |
A |
T |
11: 115,188,222 (GRCm39) |
D27E |
probably benign |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,977,773 (GRCm39) |
I37N |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,030 (GRCm39) |
L128P |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,611,926 (GRCm39) |
T130A |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,467,631 (GRCm39) |
Y2527N |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,364,330 (GRCm39) |
D820G |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,751,276 (GRCm39) |
Y1289H |
probably damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,908,172 (GRCm39) |
I263F |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,917 (GRCm39) |
M427L |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,159,966 (GRCm39) |
M91L |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,089,741 (GRCm39) |
Y48F |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,231 (GRCm39) |
Y128C |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,066,938 (GRCm39) |
D140G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,981,538 (GRCm39) |
T1827A |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,828,036 (GRCm39) |
R302G |
probably benign |
Het |
| Or51f2 |
C |
T |
7: 102,526,992 (GRCm39) |
R222* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,896,805 (GRCm39) |
E1943G |
unknown |
Het |
| Pex19 |
T |
G |
1: 171,954,417 (GRCm39) |
|
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,117 (GRCm39) |
N166S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,066 (GRCm39) |
V328E |
probably damaging |
Het |
| Pstpip2 |
C |
T |
18: 77,962,004 (GRCm39) |
T258I |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Ros1 |
T |
C |
10: 52,004,563 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,748,779 (GRCm39) |
M787T |
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,596,730 (GRCm39) |
R1440W |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,396 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,061,835 (GRCm39) |
I2335V |
probably benign |
Het |
| Srp68 |
G |
C |
11: 116,144,909 (GRCm39) |
|
probably null |
Het |
| Taar1 |
A |
G |
10: 23,796,680 (GRCm39) |
D126G |
probably benign |
Het |
| Tle5 |
A |
G |
10: 81,401,481 (GRCm39) |
H183R |
probably damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,687,653 (GRCm39) |
F364L |
probably damaging |
Het |
| Trav2 |
A |
T |
14: 52,805,238 (GRCm39) |
K20* |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,951,918 (GRCm39) |
E927G |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,026,776 (GRCm39) |
D637E |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,580,009 (GRCm39) |
F271L |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,894 (GRCm39) |
D7V |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,321,512 (GRCm39) |
T534I |
unknown |
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 |
|
R7903:Tdrd9
|
UTSW |
12 |
112,018,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- GAACTCTGGGTTACCTCTTCATG -3'
(R):5'- TACGCAATGCAGAATCGCAC -3'
Sequencing Primer
(F):5'- CATGCGTAAATACCTAAGCGTGGTC -3'
(R):5'- TGCAGAATCGCACTGAAGTAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation