Incidental Mutation 'R0584:Fitm1'
| ID |
56579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fitm1
|
| Ensembl Gene |
ENSMUSG00000022215 |
| Gene Name |
fat storage-inducing transmembrane protein 1 |
| Synonyms |
1110028A07Rik, Fit1, Cg10671 |
| MMRRC Submission |
038774-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R0584 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55813131-55814409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55814113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 203
(V203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022826]
[ENSMUST00000022828]
[ENSMUST00000089619]
[ENSMUST00000172738]
[ENSMUST00000174563]
[ENSMUST00000174259]
[ENSMUST00000174484]
|
| AlphaFold |
Q91V79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022826
AA Change: V203A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000022826
Gene: ENSMUSG00000022215
AA Change: V203A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022828
|
| SMART Domains |
Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
3 |
191 |
1.9e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089619
|
| SMART Domains |
Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
6 |
69 |
4.1e-29 |
PFAM |
|
low complexity region
|
70 |
98 |
N/A |
INTRINSIC |
|
Pfam:PA28_beta
|
100 |
236 |
2.4e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135068
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172738
|
| SMART Domains |
Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
6 |
69 |
3.8e-29 |
PFAM |
|
low complexity region
|
70 |
98 |
N/A |
INTRINSIC |
|
Pfam:PA28_beta
|
129 |
226 |
3.2e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174791
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174563
|
| SMART Domains |
Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
6 |
58 |
7.5e-18 |
PFAM |
|
low complexity region
|
59 |
87 |
N/A |
INTRINSIC |
|
Pfam:PA28_beta
|
89 |
173 |
5.4e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174259
|
| SMART Domains |
Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
8 |
68 |
6e-27 |
PFAM |
|
low complexity region
|
70 |
98 |
N/A |
INTRINSIC |
|
Pfam:PA28_beta
|
103 |
247 |
9.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174484
|
| SMART Domains |
Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
6 |
69 |
4.4e-29 |
PFAM |
|
low complexity region
|
70 |
98 |
N/A |
INTRINSIC |
|
Pfam:PA28_beta
|
100 |
238 |
7.7e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174352
|
| SMART Domains |
Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0172
|
1 |
43 |
6.3e-11 |
PFAM |
|
Pfam:UPF0172
|
41 |
82 |
1.2e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,847,564 (GRCm39) |
S1745P |
probably damaging |
Het |
| Agfg2 |
G |
A |
5: 137,665,992 (GRCm39) |
T89I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,017 (GRCm39) |
I27M |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,087,047 (GRCm39) |
L206Q |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,546,632 (GRCm39) |
E472V |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,465,157 (GRCm39) |
V313E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,352,268 (GRCm39) |
I87V |
probably null |
Het |
| Ccl25 |
C |
T |
8: 4,404,085 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,263,571 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,494,078 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,881,315 (GRCm39) |
Y2587H |
probably damaging |
Het |
| Dppa3 |
T |
C |
6: 122,606,951 (GRCm39) |
I147T |
probably benign |
Het |
| Fam120b |
T |
C |
17: 15,622,384 (GRCm39) |
S121P |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,081 (GRCm39) |
T152M |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,851,772 (GRCm39) |
L103P |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Gcn1 |
G |
A |
5: 115,733,074 (GRCm39) |
R1037Q |
probably damaging |
Het |
| Gm11563 |
A |
G |
11: 99,549,451 (GRCm39) |
I101T |
unknown |
Het |
| Gpd1l |
A |
G |
9: 114,743,412 (GRCm39) |
F163L |
probably damaging |
Het |
| Grp |
C |
A |
18: 66,006,766 (GRCm39) |
A30E |
possibly damaging |
Het |
| H1f7 |
C |
A |
15: 98,154,958 (GRCm39) |
E64* |
probably null |
Het |
| Icosl |
T |
C |
10: 77,907,709 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,747,180 (GRCm39) |
T1194A |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,433,039 (GRCm39) |
S1431P |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,670,467 (GRCm39) |
S1503P |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Myh13 |
G |
T |
11: 67,251,200 (GRCm39) |
E1360* |
probably null |
Het |
| Nop58 |
A |
G |
1: 59,745,919 (GRCm39) |
D400G |
probably benign |
Het |
| Or5p79 |
T |
C |
7: 108,221,622 (GRCm39) |
L201P |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,817 (GRCm39) |
V138A |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,977,387 (GRCm39) |
|
probably null |
Het |
| Pde9a |
A |
T |
17: 31,678,951 (GRCm39) |
Y264F |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,660 (GRCm39) |
K2763* |
probably null |
Het |
| Prkci |
T |
A |
3: 31,079,289 (GRCm39) |
C42* |
probably null |
Het |
| Ptprr |
T |
C |
10: 116,087,063 (GRCm39) |
V270A |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,311,335 (GRCm39) |
N688K |
possibly damaging |
Het |
| S1pr3 |
A |
T |
13: 51,573,697 (GRCm39) |
M293L |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,499,597 (GRCm39) |
L232R |
probably damaging |
Het |
| Sirt5 |
T |
A |
13: 43,548,204 (GRCm39) |
|
probably null |
Het |
| Sp6 |
C |
T |
11: 96,913,091 (GRCm39) |
T268M |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,194,921 (GRCm39) |
N76S |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,259,204 (GRCm39) |
N1560D |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,279 (GRCm39) |
L510P |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,779,494 (GRCm39) |
I401T |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,578 (GRCm39) |
V118A |
possibly damaging |
Het |
|
| Other mutations in Fitm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4938:Fitm1
|
UTSW |
14 |
55,814,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Fitm1
|
UTSW |
14 |
55,813,831 (GRCm39) |
splice site |
probably null |
|
|
R4997:Fitm1
|
UTSW |
14 |
55,814,364 (GRCm39) |
missense |
probably benign |
|
|
R5071:Fitm1
|
UTSW |
14 |
55,813,230 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5548:Fitm1
|
UTSW |
14 |
55,813,154 (GRCm39) |
missense |
probably benign |
|
|
R7400:Fitm1
|
UTSW |
14 |
55,814,226 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8084:Fitm1
|
UTSW |
14 |
55,813,906 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8142:Fitm1
|
UTSW |
14 |
55,813,247 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Fitm1
|
UTSW |
14 |
55,814,106 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTACTCATCGAGGACCTGACG -3'
(R):5'- CCAACAGGATGGAAGTCACGTACAG -3'
Sequencing Primer
(F):5'- ACCTGACGGGTTCCTGC -3'
(R):5'- AAGGAACTTGAGCATCTTACCCTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation