Incidental Mutation 'R1077:Fis1'
| ID |
85679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fis1
|
| Ensembl Gene |
ENSMUSG00000019054 |
| Gene Name |
fission, mitochondrial 1 |
| Synonyms |
Ttc11, 2010003O14Rik |
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136982129-136995088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 136994000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 28
(A28T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001790]
[ENSMUST00000019198]
[ENSMUST00000111093]
[ENSMUST00000111094]
[ENSMUST00000111097]
|
| AlphaFold |
Q9CQ92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001790
|
| SMART Domains |
Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
2 |
179 |
6.4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019198
AA Change: A78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054
AA Change: A78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fis1_TPR_N
|
33 |
65 |
2.3e-18 |
PFAM |
|
Pfam:Fis1_TPR_C
|
71 |
123 |
2.1e-27 |
PFAM |
|
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111093
|
| SMART Domains |
Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
2 |
179 |
6.5e-36 |
PFAM |
|
Pfam:Claudin_2
|
12 |
181 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111094
AA Change: A71T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054
AA Change: A71T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fis1_TPR_N
|
25 |
59 |
3.1e-20 |
PFAM |
|
Pfam:Fis1_TPR_C
|
64 |
116 |
6.1e-28 |
PFAM |
|
low complexity region
|
117 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111097
AA Change: A28T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106726
Gene: ENSMUSG00000019054
AA Change: A28T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fis1_TPR_C
|
21 |
73 |
1.4e-28 |
PFAM |
|
low complexity region
|
74 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152658
|
| Meta Mutation Damage Score |
0.6522 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
probably benign |
Het |
|
| Other mutations in Fis1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Fis1
|
APN |
5 |
136,994,828 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0650:Fis1
|
UTSW |
5 |
136,991,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1920:Fis1
|
UTSW |
5 |
136,994,461 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2848:Fis1
|
UTSW |
5 |
136,991,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2849:Fis1
|
UTSW |
5 |
136,991,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4678:Fis1
|
UTSW |
5 |
136,991,951 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5410:Fis1
|
UTSW |
5 |
136,994,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Fis1
|
UTSW |
5 |
136,994,528 (GRCm39) |
splice site |
probably null |
|
|
R8331:Fis1
|
UTSW |
5 |
136,991,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8406:Fis1
|
UTSW |
5 |
136,991,865 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8742:Fis1
|
UTSW |
5 |
136,982,365 (GRCm39) |
start gained |
probably benign |
|
|
R8745:Fis1
|
UTSW |
5 |
136,982,365 (GRCm39) |
start gained |
probably benign |
|
|
R9548:Fis1
|
UTSW |
5 |
136,991,907 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGAATGCACCCATCCATACAG -3'
(R):5'- TCCTGCAATCAGAGGAAAGGCAC -3'
Sequencing Primer
(F):5'- GCTGTAACTGGGAAGCTGC -3'
(R):5'- CTAGCAGAGATAACAGCTCCAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation