Incidental Mutation 'R7588:Fam83g'
| ID |
587269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83g
|
| Ensembl Gene |
ENSMUSG00000042377 |
| Gene Name |
family with sequence similarity 83, member G |
| Synonyms |
wly, 2310040C09Rik |
| MMRRC Submission |
045636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61574917-61600777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61575522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 55
(I55F)
|
| 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: I55F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: I55F
| 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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
| Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
| Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
| Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
| Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
| Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
| Mapk8ip1 |
T |
A |
2: 92,216,984 (GRCm39) |
D446V |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
| Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
| Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
| Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,698,673 (GRCm39) |
Y15H |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,381,134 (GRCm39) |
N470D |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
| Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
| Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
| Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
| Trim28 |
A |
C |
7: 12,763,347 (GRCm39) |
D496A |
probably damaging |
Het |
| Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
| Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,128,405 (GRCm39) |
Y7C |
possibly 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 |
|
IGL02958:Fam83g
|
APN |
11 |
61,598,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATTCCGAGAACCTCAGG -3'
(R):5'- TTCTGGGGCCAATACTCCAG -3'
Sequencing Primer
(F):5'- CTCAGGTGCGGTTCTCAGAG -3'
(R):5'- CAATACTCCAGCGAGGGCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation