Incidental Mutation 'R1722:Trim9'
ID |
191571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim9
|
Ensembl Gene |
ENSMUSG00000021071 |
Gene Name |
tripartite motif-containing 9 |
Synonyms |
C030048G07Rik |
MMRRC Submission |
039754-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R1722 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70295148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 658
(N658S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
AlphaFold |
Q8C7M3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110520
AA Change: N658S
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000106149 Gene: ENSMUSG00000021071 AA Change: N658S
Domain | Start | End | E-Value | Type |
RING
|
10 |
131 |
1.23e-4 |
SMART |
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
BBC
|
273 |
399 |
1.29e-38 |
SMART |
FN3
|
439 |
522 |
4.09e-7 |
SMART |
Pfam:SPRY
|
598 |
702 |
2.4e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110522
AA Change: N732S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000106151 Gene: ENSMUSG00000021071 AA Change: N732S
Domain | Start | End | E-Value | Type |
RING
|
10 |
131 |
1.23e-4 |
SMART |
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
BBC
|
273 |
399 |
1.29e-38 |
SMART |
FN3
|
439 |
522 |
4.09e-7 |
SMART |
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
Pfam:SPRY
|
674 |
776 |
1.5e-9 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000221294
AA Change: N704S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222316
AA Change: N750S
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223160
AA Change: N654S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223518
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display increased axonal branching and increased corpus callosum thickness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
T |
2: 103,824,273 (GRCm39) |
|
probably null |
Het |
Adss1 |
A |
T |
12: 112,602,915 (GRCm39) |
I346F |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,988,019 (GRCm39) |
L3101H |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
Angptl1 |
C |
T |
1: 156,684,655 (GRCm39) |
P275S |
possibly damaging |
Het |
Apoa5 |
C |
T |
9: 46,181,847 (GRCm39) |
Q308* |
probably null |
Het |
Arhgef12 |
T |
C |
9: 42,932,013 (GRCm39) |
*106W |
probably null |
Het |
Atp2c1 |
A |
G |
9: 105,316,599 (GRCm39) |
Y485H |
probably benign |
Het |
Atp6v1b1 |
C |
T |
6: 83,720,074 (GRCm39) |
T3I |
possibly damaging |
Het |
Btbd7 |
A |
T |
12: 102,778,913 (GRCm39) |
I451N |
possibly damaging |
Het |
Clasp1 |
T |
G |
1: 118,518,194 (GRCm39) |
L1080R |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,623,915 (GRCm39) |
V408A |
probably benign |
Het |
Clint1 |
T |
A |
11: 45,797,233 (GRCm39) |
M438K |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,373 (GRCm39) |
Y415N |
probably damaging |
Het |
Ddias |
A |
G |
7: 92,509,250 (GRCm39) |
F222L |
possibly damaging |
Het |
Efcab7 |
A |
T |
4: 99,757,815 (GRCm39) |
T321S |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,788,846 (GRCm39) |
D393E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,181,124 (GRCm39) |
|
probably null |
Het |
Fcgr3 |
T |
C |
1: 170,881,688 (GRCm39) |
R146G |
possibly damaging |
Het |
Fkrp |
G |
A |
7: 16,544,719 (GRCm39) |
A381V |
probably benign |
Het |
Gatad2b |
T |
G |
3: 90,262,986 (GRCm39) |
I476S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,975,783 (GRCm39) |
H557Y |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,599 (GRCm39) |
C102S |
unknown |
Het |
Hoxd13 |
A |
G |
2: 74,500,389 (GRCm39) |
N310S |
probably benign |
Het |
Il9 |
T |
A |
13: 56,627,208 (GRCm39) |
T135S |
probably benign |
Het |
Ints4 |
A |
C |
7: 97,162,786 (GRCm39) |
N476T |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,559,624 (GRCm39) |
D525E |
probably benign |
Het |
Kncn |
A |
T |
4: 115,743,096 (GRCm39) |
Y57F |
probably damaging |
Het |
Lpl |
TGG |
TG |
8: 69,349,254 (GRCm39) |
|
probably null |
Het |
Lrrfip2 |
A |
G |
9: 111,028,829 (GRCm39) |
T351A |
probably damaging |
Het |
Madd |
T |
C |
2: 90,997,982 (GRCm39) |
E682G |
probably benign |
Het |
Marchf7 |
A |
C |
2: 60,064,526 (GRCm39) |
R267S |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 18,051,767 (GRCm39) |
L252Q |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,554 (GRCm39) |
V296D |
possibly damaging |
Het |
Myo3a |
A |
G |
2: 22,404,638 (GRCm39) |
T665A |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,225 (GRCm39) |
V758A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,573,116 (GRCm39) |
D2489G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,146,757 (GRCm39) |
T2836A |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,291,010 (GRCm39) |
V203E |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,846 (GRCm39) |
Q392K |
possibly damaging |
Het |
Nploc4 |
G |
T |
11: 120,273,395 (GRCm39) |
A576E |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,516 (GRCm39) |
N162K |
probably damaging |
Het |
Or3a1 |
T |
C |
11: 74,225,271 (GRCm39) |
Y262C |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,805 (GRCm39) |
T315S |
probably benign |
Het |
Pabpc2 |
T |
G |
18: 39,908,169 (GRCm39) |
I478S |
probably benign |
Het |
Pde7b |
G |
T |
10: 20,311,990 (GRCm39) |
H190Q |
probably damaging |
Het |
Plekha2 |
A |
T |
8: 25,532,976 (GRCm39) |
S332T |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl11a |
A |
T |
5: 146,782,052 (GRCm39) |
H9L |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,159,458 (GRCm39) |
F177I |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,669 (GRCm39) |
L74P |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,991,655 (GRCm39) |
V78A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,703,508 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
C |
11: 35,898,930 (GRCm39) |
Y2743D |
probably damaging |
Het |
Tmem101 |
T |
C |
11: 102,045,519 (GRCm39) |
Y110C |
probably damaging |
Het |
Ucp1 |
A |
T |
8: 84,017,317 (GRCm39) |
T36S |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,067 (GRCm39) |
I382T |
probably damaging |
Het |
Zfp142 |
C |
T |
1: 74,608,935 (GRCm39) |
R1620Q |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
|
Other mutations in Trim9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Trim9
|
APN |
12 |
70,393,887 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01618:Trim9
|
APN |
12 |
70,295,125 (GRCm39) |
missense |
probably benign |
|
IGL01794:Trim9
|
APN |
12 |
70,328,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03101:Trim9
|
APN |
12 |
70,393,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Trim9
|
APN |
12 |
70,297,995 (GRCm39) |
missense |
probably damaging |
0.99 |
E0354:Trim9
|
UTSW |
12 |
70,319,233 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03098:Trim9
|
UTSW |
12 |
70,327,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0518:Trim9
|
UTSW |
12 |
70,393,359 (GRCm39) |
missense |
probably damaging |
0.99 |
R0622:Trim9
|
UTSW |
12 |
70,393,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Trim9
|
UTSW |
12 |
70,295,037 (GRCm39) |
missense |
probably damaging |
0.97 |
R1022:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
R1024:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
R1204:Trim9
|
UTSW |
12 |
70,393,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Trim9
|
UTSW |
12 |
70,297,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1530:Trim9
|
UTSW |
12 |
70,319,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R1613:Trim9
|
UTSW |
12 |
70,295,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R1665:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R2097:Trim9
|
UTSW |
12 |
70,393,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R3082:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3123:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3124:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3125:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3738:Trim9
|
UTSW |
12 |
70,297,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4017:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Trim9
|
UTSW |
12 |
70,393,892 (GRCm39) |
nonsense |
probably null |
|
R4734:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Trim9
|
UTSW |
12 |
70,393,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Trim9
|
UTSW |
12 |
70,393,482 (GRCm39) |
missense |
probably damaging |
0.96 |
R5451:Trim9
|
UTSW |
12 |
70,393,603 (GRCm39) |
missense |
probably benign |
0.17 |
R5471:Trim9
|
UTSW |
12 |
70,393,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6394:Trim9
|
UTSW |
12 |
70,301,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6901:Trim9
|
UTSW |
12 |
70,393,413 (GRCm39) |
missense |
probably damaging |
0.96 |
R7549:Trim9
|
UTSW |
12 |
70,393,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Trim9
|
UTSW |
12 |
70,295,117 (GRCm39) |
missense |
probably benign |
|
R7895:Trim9
|
UTSW |
12 |
70,301,961 (GRCm39) |
missense |
probably benign |
0.03 |
R8003:Trim9
|
UTSW |
12 |
70,393,608 (GRCm39) |
missense |
probably benign |
0.39 |
R8026:Trim9
|
UTSW |
12 |
70,337,161 (GRCm39) |
missense |
probably benign |
0.00 |
R8223:Trim9
|
UTSW |
12 |
70,297,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R8956:Trim9
|
UTSW |
12 |
70,393,665 (GRCm39) |
missense |
probably damaging |
0.97 |
R9017:Trim9
|
UTSW |
12 |
70,314,013 (GRCm39) |
missense |
probably benign |
|
R9475:Trim9
|
UTSW |
12 |
70,393,228 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGCCAGTCTGTTGAAGTCATTC -3'
(R):5'- GGTAAAAGCCAGCGGCAAACTC -3'
Sequencing Primer
(F):5'- CTGTTGAAGTCATTCAGGTCTAC -3'
(R):5'- CTACTATACATGGGGCCAAGTTC -3'
|
Posted On |
2014-05-14 |