Incidental Mutation 'IGL00907:Fam234a'
| ID |
29255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam234a
|
| Ensembl Gene |
ENSMUSG00000024187 |
| Gene Name |
family with sequence similarity 234, member A |
| Synonyms |
Itfg3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26431673-26463216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26432500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 550
(R550W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000118487]
[ENSMUST00000122058]
[ENSMUST00000151293]
|
| AlphaFold |
Q8C0Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025020
|
| SMART Domains |
Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
34 |
109 |
7.78e-17 |
SMART |
|
G_gamma
|
220 |
284 |
1.38e-19 |
SMART |
|
GGL
|
223 |
284 |
1.1e-26 |
SMART |
|
RGS
|
303 |
418 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114988
AA Change: R550W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
AA Change: R550W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118487
AA Change: R550W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187
AA Change: R550W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122058
|
| SMART Domains |
Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
32 |
107 |
7.78e-17 |
SMART |
|
G_gamma
|
218 |
282 |
1.38e-19 |
SMART |
|
GGL
|
221 |
282 |
1.1e-26 |
SMART |
|
RGS
|
301 |
416 |
6.23e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151293
|
| SMART Domains |
Protein: ENSMUSP00000117020
Gene: ENSMUSG00000024187
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
|
| Other mutations in Fam234a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02635:Fam234a
|
APN |
17 |
26,433,427 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0269:Fam234a
|
UTSW |
17 |
26,435,591 (GRCm39) |
missense |
probably benign |
|
|
R0617:Fam234a
|
UTSW |
17 |
26,435,591 (GRCm39) |
missense |
probably benign |
|
|
R1687:Fam234a
|
UTSW |
17 |
26,434,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Fam234a
|
UTSW |
17 |
26,435,629 (GRCm39) |
splice site |
probably null |
|
|
R2016:Fam234a
|
UTSW |
17 |
26,437,290 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3826:Fam234a
|
UTSW |
17 |
26,437,163 (GRCm39) |
missense |
probably benign |
|
|
R3827:Fam234a
|
UTSW |
17 |
26,437,163 (GRCm39) |
missense |
probably benign |
|
|
R3829:Fam234a
|
UTSW |
17 |
26,437,163 (GRCm39) |
missense |
probably benign |
|
|
R4133:Fam234a
|
UTSW |
17 |
26,432,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4190:Fam234a
|
UTSW |
17 |
26,432,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4193:Fam234a
|
UTSW |
17 |
26,432,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4858:Fam234a
|
UTSW |
17 |
26,435,591 (GRCm39) |
missense |
probably benign |
|
|
R4885:Fam234a
|
UTSW |
17 |
26,432,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Fam234a
|
UTSW |
17 |
26,432,512 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5719:Fam234a
|
UTSW |
17 |
26,433,627 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5735:Fam234a
|
UTSW |
17 |
26,432,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Fam234a
|
UTSW |
17 |
26,437,211 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6341:Fam234a
|
UTSW |
17 |
26,432,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Fam234a
|
UTSW |
17 |
26,439,429 (GRCm39) |
nonsense |
probably null |
|
|
R6621:Fam234a
|
UTSW |
17 |
26,432,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Fam234a
|
UTSW |
17 |
26,435,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7801:Fam234a
|
UTSW |
17 |
26,437,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7956:Fam234a
|
UTSW |
17 |
26,435,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Fam234a
|
UTSW |
17 |
26,437,672 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8393:Fam234a
|
UTSW |
17 |
26,437,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Fam234a
|
UTSW |
17 |
26,435,531 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9417:Fam234a
|
UTSW |
17 |
26,435,225 (GRCm39) |
missense |
probably benign |
|
|
R9740:Fam234a
|
UTSW |
17 |
26,432,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Fam234a
|
UTSW |
17 |
26,432,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF020:Fam234a
|
UTSW |
17 |
26,437,725 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2013-04-17 |
Incidental Mutation