Incidental Mutation 'IGL02029:Fam83h'
ID |
184297 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam83h
|
Ensembl Gene |
ENSMUSG00000046761 |
Gene Name |
family with sequence similarity 83, member H |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
IGL02029
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75878287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 37
(E37G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060807]
[ENSMUST00000170153]
[ENSMUST00000187868]
|
AlphaFold |
Q148V8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060807
AA Change: E37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059839 Gene: ENSMUSG00000046761 AA Change: E37G
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
12 |
283 |
3.4e-105 |
PFAM |
low complexity region
|
304 |
317 |
N/A |
INTRINSIC |
low complexity region
|
562 |
578 |
N/A |
INTRINSIC |
low complexity region
|
629 |
652 |
N/A |
INTRINSIC |
low complexity region
|
671 |
679 |
N/A |
INTRINSIC |
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
internal_repeat_1
|
836 |
877 |
9.35e-9 |
PROSPERO |
internal_repeat_1
|
877 |
921 |
9.35e-9 |
PROSPERO |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170153
AA Change: E37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126453 Gene: ENSMUSG00000046761 AA Change: E37G
Domain | Start | End | E-Value | Type |
Pfam:DUF1669
|
4 |
284 |
2.1e-110 |
PFAM |
low complexity region
|
304 |
317 |
N/A |
INTRINSIC |
low complexity region
|
562 |
578 |
N/A |
INTRINSIC |
low complexity region
|
629 |
652 |
N/A |
INTRINSIC |
low complexity region
|
671 |
679 |
N/A |
INTRINSIC |
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
low complexity region
|
736 |
747 |
N/A |
INTRINSIC |
internal_repeat_1
|
836 |
877 |
9.35e-9 |
PROSPERO |
internal_repeat_1
|
877 |
921 |
9.35e-9 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185810
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187868
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
T |
C |
10: 126,916,152 (GRCm39) |
V221A |
unknown |
Het |
Akr1c13 |
T |
A |
13: 4,255,361 (GRCm39) |
Y317* |
probably null |
Het |
Bicd2 |
T |
A |
13: 49,522,975 (GRCm39) |
I30N |
probably damaging |
Het |
Cadm2 |
G |
T |
16: 66,544,182 (GRCm39) |
N291K |
probably damaging |
Het |
Ccdc61 |
C |
T |
7: 18,637,423 (GRCm39) |
C68Y |
probably damaging |
Het |
Ccnl2 |
A |
G |
4: 155,906,319 (GRCm39) |
S351G |
probably benign |
Het |
Cdcp1 |
A |
G |
9: 123,012,899 (GRCm39) |
|
probably benign |
Het |
Clhc1 |
T |
C |
11: 29,510,798 (GRCm39) |
S256P |
probably benign |
Het |
Fancd2 |
C |
T |
6: 113,547,936 (GRCm39) |
L938F |
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,342,675 (GRCm39) |
A68E |
probably benign |
Het |
Fcrl1 |
T |
A |
3: 87,283,794 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
G |
2: 120,290,338 (GRCm39) |
T892A |
probably benign |
Het |
Gramd1a |
C |
T |
7: 30,832,249 (GRCm39) |
R596H |
possibly damaging |
Het |
Limk1 |
A |
T |
5: 134,686,808 (GRCm39) |
Y518* |
probably null |
Het |
Map1a |
A |
G |
2: 121,133,779 (GRCm39) |
T1294A |
possibly damaging |
Het |
Marchf3 |
G |
A |
18: 56,940,753 (GRCm39) |
P126S |
probably benign |
Het |
Ntn5 |
A |
G |
7: 45,336,015 (GRCm39) |
I149V |
probably benign |
Het |
Nup43 |
T |
C |
10: 7,543,347 (GRCm39) |
F8L |
possibly damaging |
Het |
Or5b122 |
A |
T |
19: 13,563,468 (GRCm39) |
M267L |
probably benign |
Het |
Or5be3 |
A |
G |
2: 86,864,245 (GRCm39) |
F107L |
probably benign |
Het |
P2rx6 |
C |
T |
16: 17,385,959 (GRCm39) |
S236F |
probably benign |
Het |
Peg10 |
G |
T |
6: 4,754,473 (GRCm39) |
|
probably benign |
Het |
Runx2 |
T |
A |
17: 44,969,574 (GRCm39) |
R238* |
probably null |
Het |
Serpinb9d |
A |
T |
13: 33,380,512 (GRCm39) |
I133L |
possibly damaging |
Het |
Snph |
A |
G |
2: 151,435,527 (GRCm39) |
V434A |
probably damaging |
Het |
Trp53rkb |
C |
A |
2: 166,637,314 (GRCm39) |
P90Q |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,580,148 (GRCm39) |
E21836* |
probably null |
Het |
Tut7 |
A |
G |
13: 59,932,702 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,326 (GRCm39) |
F507I |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,403 (GRCm39) |
S70P |
probably benign |
Het |
Zfp354b |
C |
T |
11: 50,814,664 (GRCm39) |
C87Y |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,079,395 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fam83h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01340:Fam83h
|
APN |
15 |
75,875,885 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01463:Fam83h
|
APN |
15 |
75,875,637 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01789:Fam83h
|
APN |
15 |
75,877,969 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02157:Fam83h
|
APN |
15 |
75,876,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03225:Fam83h
|
APN |
15 |
75,875,150 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4260001:Fam83h
|
UTSW |
15 |
75,873,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Fam83h
|
UTSW |
15 |
75,875,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Fam83h
|
UTSW |
15 |
75,874,377 (GRCm39) |
missense |
probably benign |
|
R0318:Fam83h
|
UTSW |
15 |
75,875,478 (GRCm39) |
missense |
probably benign |
0.04 |
R0539:Fam83h
|
UTSW |
15 |
75,875,076 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0638:Fam83h
|
UTSW |
15 |
75,875,776 (GRCm39) |
missense |
probably benign |
0.01 |
R0790:Fam83h
|
UTSW |
15 |
75,875,241 (GRCm39) |
missense |
probably benign |
0.43 |
R0883:Fam83h
|
UTSW |
15 |
75,878,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Fam83h
|
UTSW |
15 |
75,878,419 (GRCm39) |
unclassified |
probably benign |
|
R2046:Fam83h
|
UTSW |
15 |
75,874,787 (GRCm39) |
missense |
probably benign |
|
R2114:Fam83h
|
UTSW |
15 |
75,874,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Fam83h
|
UTSW |
15 |
75,874,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Fam83h
|
UTSW |
15 |
75,876,582 (GRCm39) |
nonsense |
probably null |
|
R3702:Fam83h
|
UTSW |
15 |
75,874,499 (GRCm39) |
missense |
probably benign |
|
R3842:Fam83h
|
UTSW |
15 |
75,874,499 (GRCm39) |
missense |
probably benign |
|
R4729:Fam83h
|
UTSW |
15 |
75,874,185 (GRCm39) |
missense |
probably benign |
|
R4791:Fam83h
|
UTSW |
15 |
75,874,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Fam83h
|
UTSW |
15 |
75,876,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Fam83h
|
UTSW |
15 |
75,874,752 (GRCm39) |
missense |
probably benign |
0.00 |
R6013:Fam83h
|
UTSW |
15 |
75,875,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R6488:Fam83h
|
UTSW |
15 |
75,873,902 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6558:Fam83h
|
UTSW |
15 |
75,876,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R6618:Fam83h
|
UTSW |
15 |
75,875,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Fam83h
|
UTSW |
15 |
75,876,588 (GRCm39) |
missense |
probably benign |
0.08 |
R7148:Fam83h
|
UTSW |
15 |
75,877,016 (GRCm39) |
missense |
probably damaging |
0.98 |
R7191:Fam83h
|
UTSW |
15 |
75,874,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Fam83h
|
UTSW |
15 |
75,876,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7705:Fam83h
|
UTSW |
15 |
75,875,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R8194:Fam83h
|
UTSW |
15 |
75,874,624 (GRCm39) |
small deletion |
probably benign |
|
R8218:Fam83h
|
UTSW |
15 |
75,874,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Fam83h
|
UTSW |
15 |
75,874,624 (GRCm39) |
small deletion |
probably benign |
|
R8293:Fam83h
|
UTSW |
15 |
75,874,624 (GRCm39) |
small deletion |
probably benign |
|
R8493:Fam83h
|
UTSW |
15 |
75,874,502 (GRCm39) |
missense |
probably benign |
0.00 |
R8910:Fam83h
|
UTSW |
15 |
75,874,844 (GRCm39) |
missense |
probably benign |
0.01 |
R9025:Fam83h
|
UTSW |
15 |
75,874,182 (GRCm39) |
missense |
probably benign |
0.27 |
R9028:Fam83h
|
UTSW |
15 |
75,875,738 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9099:Fam83h
|
UTSW |
15 |
75,875,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9320:Fam83h
|
UTSW |
15 |
75,873,924 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9649:Fam83h
|
UTSW |
15 |
75,877,976 (GRCm39) |
missense |
probably damaging |
1.00 |
X0010:Fam83h
|
UTSW |
15 |
75,876,788 (GRCm39) |
critical splice donor site |
probably null |
|
X0061:Fam83h
|
UTSW |
15 |
75,875,352 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fam83h
|
UTSW |
15 |
75,878,390 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fam83h
|
UTSW |
15 |
75,874,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |