Incidental Mutation 'PIT4402001:Fam83g'
ID |
555538 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4402001 (G1)
|
Quality Score |
171.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61574917-61600777 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61594422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 652
(H652R)
|
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: H652R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090697 Gene: ENSMUSG00000042377 AA Change: H652R
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: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
IGL02958:Fam83g
|
APN |
11 |
61,598,548 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTCATCTATGACGCAGG -3'
(R):5'- TCTTGGGGTAACTGTAGAACAC -3'
Sequencing Primer
(F):5'- ATGACTACGTGACCCTCAGTG -3'
(R):5'- GTAACTGTAGAACACTTTGGGATG -3'
|
Posted On |
2019-06-07 |