Incidental Mutation 'R6536:Trim67'
| ID |
520417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim67
|
| Ensembl Gene |
ENSMUSG00000036913 |
| Gene Name |
tripartite motif-containing 67 |
| Synonyms |
D130049O21Rik |
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
167.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125519831-125561452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125521081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 148
(S148P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041106]
[ENSMUST00000167588]
[ENSMUST00000211867]
|
| AlphaFold |
Q505D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041106
AA Change: S148P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: S148P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
635 |
755 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167588
AA Change: S148P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: S148P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
633 |
756 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211867
AA Change: S148P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
probably damaging |
Het |
|
| Other mutations in Trim67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Trim67
|
APN |
8 |
125,541,799 (GRCm39) |
splice site |
probably benign |
|
|
IGL01676:Trim67
|
APN |
8 |
125,541,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01779:Trim67
|
APN |
8 |
125,554,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Trim67
|
APN |
8 |
125,549,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02201:Trim67
|
APN |
8 |
125,520,797 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02304:Trim67
|
APN |
8 |
125,552,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Trim67
|
UTSW |
8 |
125,521,307 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0241:Trim67
|
UTSW |
8 |
125,549,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0319:Trim67
|
UTSW |
8 |
125,549,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0471:Trim67
|
UTSW |
8 |
125,521,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Trim67
|
UTSW |
8 |
125,555,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1175:Trim67
|
UTSW |
8 |
125,543,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Trim67
|
UTSW |
8 |
125,549,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1596:Trim67
|
UTSW |
8 |
125,552,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1706:Trim67
|
UTSW |
8 |
125,521,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Trim67
|
UTSW |
8 |
125,521,406 (GRCm39) |
missense |
probably benign |
|
|
R5200:Trim67
|
UTSW |
8 |
125,551,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5787:Trim67
|
UTSW |
8 |
125,521,051 (GRCm39) |
nonsense |
probably null |
|
|
R6023:Trim67
|
UTSW |
8 |
125,541,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Trim67
|
UTSW |
8 |
125,549,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7315:Trim67
|
UTSW |
8 |
125,521,069 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7660:Trim67
|
UTSW |
8 |
125,547,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Trim67
|
UTSW |
8 |
125,520,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8446:Trim67
|
UTSW |
8 |
125,520,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8713:Trim67
|
UTSW |
8 |
125,547,074 (GRCm39) |
missense |
probably null |
0.06 |
|
R8897:Trim67
|
UTSW |
8 |
125,552,718 (GRCm39) |
missense |
probably benign |
|
|
R9322:Trim67
|
UTSW |
8 |
125,549,967 (GRCm39) |
nonsense |
probably null |
|
|
R9430:Trim67
|
UTSW |
8 |
125,552,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Trim67
|
UTSW |
8 |
125,521,497 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1088:Trim67
|
UTSW |
8 |
125,543,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAATGTCTGCTTGCCGTG -3'
(R):5'- TAGAGCACGTCGCATTGCTC -3'
Sequencing Primer
(F):5'- ACTATCGCGGTTCAGACCC -3'
(R):5'- CAGAGAGTGGCTGCCGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation