Incidental Mutation 'IGL02635:Fam234a'
| ID |
301493 |
| 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 # |
IGL02635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26431673-26463216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26433427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 410
(I410F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000114988
AA Change: I410F
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
AA Change: I410F
| 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 |
possibly damaging
Transcript: ENSMUST00000118487
AA Change: I410F
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187
AA Change: I410F
| 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: ENSMUST00000152676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153582
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
A |
C |
12: 112,381,586 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
C |
T |
8: 87,236,311 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,120,500 (GRCm39) |
S3639P |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,691,590 (GRCm39) |
V1124I |
possibly damaging |
Het |
| AW209491 |
C |
T |
13: 14,811,852 (GRCm39) |
A235V |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,581,009 (GRCm39) |
D58E |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,870,070 (GRCm39) |
M25K |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,737,910 (GRCm39) |
I1096V |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,365,902 (GRCm39) |
L693P |
probably damaging |
Het |
| Golgb1 |
G |
T |
16: 36,735,375 (GRCm39) |
V1541L |
probably benign |
Het |
| Gpr143 |
G |
A |
X: 151,591,257 (GRCm39) |
E382K |
probably damaging |
Het |
| Gpr171 |
C |
T |
3: 59,005,017 (GRCm39) |
V253I |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,814 (GRCm39) |
W10R |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,913,556 (GRCm39) |
D116V |
possibly damaging |
Het |
| Ifih1 |
A |
T |
2: 62,442,173 (GRCm39) |
L348Q |
probably damaging |
Het |
| Ighv1-50 |
G |
A |
12: 115,083,615 (GRCm39) |
A35V |
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,459 (GRCm39) |
M112L |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,534,282 (GRCm39) |
V280E |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,185,845 (GRCm39) |
I223K |
probably damaging |
Het |
| Oog3 |
T |
C |
4: 143,884,715 (GRCm39) |
N407S |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,701,251 (GRCm39) |
I72V |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,453 (GRCm39) |
*1035W |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,785 (GRCm39) |
F1157L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,135,842 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,907,631 (GRCm39) |
E888G |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,549,246 (GRCm39) |
G251E |
unknown |
Het |
| Prkar2a |
A |
G |
9: 108,605,476 (GRCm39) |
E178G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,592,122 (GRCm39) |
T352S |
possibly damaging |
Het |
| S1pr1 |
T |
C |
3: 115,505,739 (GRCm39) |
K285R |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,067,898 (GRCm39) |
H995R |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,020,133 (GRCm39) |
N382K |
possibly damaging |
Het |
| Snrnp48 |
T |
G |
13: 38,393,845 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,943,549 (GRCm39) |
D201G |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,500,685 (GRCm39) |
D625G |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,103,565 (GRCm39) |
H1380R |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,142,296 (GRCm39) |
M430K |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,510,609 (GRCm39) |
V547E |
probably damaging |
Het |
| Tmem255b |
G |
T |
8: 13,505,195 (GRCm39) |
D167Y |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,923,981 (GRCm39) |
R735G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,848,972 (GRCm39) |
T73A |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,850,827 (GRCm39) |
L1748F |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Ybx1 |
T |
C |
4: 119,136,286 (GRCm39) |
N282S |
possibly damaging |
Het |
| Zdhhc12 |
T |
A |
2: 29,983,531 (GRCm39) |
I24F |
probably damaging |
Het |
|
| Other mutations in Fam234a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Fam234a
|
APN |
17 |
26,432,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation