Incidental Mutation 'IGL02958:Fam83g'
| ID |
365214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam83g
|
| Ensembl Gene |
ENSMUSG00000042377 |
| Gene Name |
family with sequence similarity 83, member G |
| Synonyms |
wly, 2310040C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL02958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61574917-61600777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61598548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 812
(P812S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051552]
[ENSMUST00000093019]
[ENSMUST00000148584]
[ENSMUST00000151780]
|
| AlphaFold |
Q5SWY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051552
|
| SMART Domains |
Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093019
AA Change: P812S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: P812S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
15 |
309 |
1.8e-120 |
PFAM |
|
Pfam:PLDc_2
|
165 |
304 |
5.5e-11 |
PFAM |
|
low complexity region
|
316 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148584
|
| SMART Domains |
Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151780
|
| SMART Domains |
Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
48 |
185 |
3.5e-44 |
PFAM |
|
Pfam:SSF
|
182 |
450 |
5e-79 |
PFAM |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
547 |
566 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations at this locus result in curly hair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
T |
17: 45,829,098 (GRCm39) |
V755L |
probably benign |
Het |
| Abhd15 |
T |
C |
11: 77,406,791 (GRCm39) |
V256A |
possibly damaging |
Het |
| Agtr1b |
A |
T |
3: 20,370,258 (GRCm39) |
V116E |
possibly damaging |
Het |
| Ahi1 |
A |
T |
10: 20,839,698 (GRCm39) |
D203V |
probably damaging |
Het |
| Aplp2 |
G |
T |
9: 31,075,972 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,144,337 (GRCm39) |
S1249P |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,073,813 (GRCm39) |
K298M |
possibly damaging |
Het |
| C4bp |
A |
G |
1: 130,564,532 (GRCm39) |
I384T |
probably damaging |
Het |
| Cacna1e |
C |
A |
1: 154,341,487 (GRCm39) |
A1236S |
probably damaging |
Het |
| Cdh13 |
T |
C |
8: 120,039,460 (GRCm39) |
I634T |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,624,263 (GRCm39) |
F524L |
probably damaging |
Het |
| Dnah7c |
G |
A |
1: 46,696,271 (GRCm39) |
R2051H |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,016,243 (GRCm39) |
K77E |
probably benign |
Het |
| Efhc2 |
C |
T |
X: 17,027,485 (GRCm39) |
|
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,083,441 (GRCm39) |
*50K |
probably null |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Itih3 |
T |
C |
14: 30,635,139 (GRCm39) |
T73A |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,307,851 (GRCm39) |
S72G |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,074,170 (GRCm39) |
V78A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,192,928 (GRCm39) |
D1353V |
probably damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
G |
T |
19: 61,164,118 (GRCm39) |
Q106K |
possibly damaging |
Het |
| Ndufs8 |
T |
C |
19: 3,961,232 (GRCm39) |
E45G |
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,870,085 (GRCm39) |
|
probably null |
Het |
| Nxt1 |
A |
G |
2: 148,517,692 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,127 (GRCm39) |
Y256C |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,961,351 (GRCm39) |
I219F |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,288,804 (GRCm39) |
C865* |
probably null |
Het |
| Pop1 |
G |
T |
15: 34,530,509 (GRCm39) |
C969F |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,712 (GRCm39) |
I16S |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,003,897 (GRCm39) |
V1863A |
possibly damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,681,729 (GRCm39) |
L296Q |
possibly damaging |
Het |
| Spmip1 |
G |
A |
6: 29,471,625 (GRCm39) |
G34R |
probably damaging |
Het |
| Ssr4 |
T |
C |
X: 72,830,856 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,621,144 (GRCm39) |
|
probably benign |
Het |
| Ttc8 |
A |
T |
12: 98,930,803 (GRCm39) |
K282N |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,906,207 (GRCm39) |
V676E |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,847,031 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,361 (GRCm39) |
I594F |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,537 (GRCm39) |
I261S |
probably damaging |
Het |
| Wdr19 |
T |
A |
5: 65,370,150 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
A |
6: 38,309,919 (GRCm39) |
D301V |
probably damaging |
Het |
|
| Other mutations in Fam83g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02121:Fam83g
|
APN |
11 |
61,575,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4402001:Fam83g
|
UTSW |
11 |
61,594,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0365:Fam83g
|
UTSW |
11 |
61,593,935 (GRCm39) |
nonsense |
probably null |
|
|
R0410:Fam83g
|
UTSW |
11 |
61,594,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Fam83g
|
UTSW |
11 |
61,598,489 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1163:Fam83g
|
UTSW |
11 |
61,594,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Fam83g
|
UTSW |
11 |
61,593,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Fam83g
|
UTSW |
11 |
61,593,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Fam83g
|
UTSW |
11 |
61,585,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Fam83g
|
UTSW |
11 |
61,593,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2105:Fam83g
|
UTSW |
11 |
61,594,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2134:Fam83g
|
UTSW |
11 |
61,594,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2968:Fam83g
|
UTSW |
11 |
61,594,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4274:Fam83g
|
UTSW |
11 |
61,592,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Fam83g
|
UTSW |
11 |
61,586,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Fam83g
|
UTSW |
11 |
61,593,420 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6280:Fam83g
|
UTSW |
11 |
61,594,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7234:Fam83g
|
UTSW |
11 |
61,593,342 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7257:Fam83g
|
UTSW |
11 |
61,575,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Fam83g
|
UTSW |
11 |
61,575,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Fam83g
|
UTSW |
11 |
61,575,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9624:Fam83g
|
UTSW |
11 |
61,575,328 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Fam83g
|
UTSW |
11 |
61,598,296 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1186:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Fam83g
|
UTSW |
11 |
61,594,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation