Incidental Mutation 'R8282:Fam83h'
| ID |
638276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83h
|
| Ensembl Gene |
ENSMUSG00000046761 |
| Gene Name |
family with sequence similarity 83, member H |
| Synonyms |
|
| MMRRC Submission |
067705-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R8282 (G1)
|
| Quality Score |
130.491 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (11 aa in frame mutation) |
| DNA Base Change (assembly) |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT to ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT
at 75874624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060807]
[ENSMUST00000089669]
[ENSMUST00000170153]
|
| AlphaFold |
Q148V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060807
|
| SMART Domains |
Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
| 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 benign
Transcript: ENSMUST00000089669
|
| SMART Domains |
Protein: ENSMUSP00000087098
Gene: ENSMUSG00000063704
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
305 |
7.08e-97 |
SMART |
|
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170153
|
| SMART Domains |
Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
A |
1: 165,337,906 (GRCm39) |
D173E |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,605,371 (GRCm39) |
D721G |
possibly damaging |
Het |
| Allc |
T |
C |
12: 28,607,356 (GRCm39) |
T299A |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,575 (GRCm39) |
|
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Brf2 |
G |
T |
8: 27,614,621 (GRCm39) |
R30S |
|
Het |
| Bsn |
A |
G |
9: 107,984,890 (GRCm39) |
S283P |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,912,740 (GRCm39) |
S233T |
possibly damaging |
Het |
| Chst15 |
T |
A |
7: 131,871,879 (GRCm39) |
H134L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,284,276 (GRCm39) |
T846A |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,591,572 (GRCm39) |
D555V |
probably damaging |
Het |
| Cyld |
C |
A |
8: 89,432,043 (GRCm39) |
P14T |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,176,738 (GRCm39) |
R1264H |
possibly damaging |
Het |
| Dkk3 |
T |
A |
7: 111,717,489 (GRCm39) |
S327C |
probably damaging |
Het |
| Dnmbp |
T |
G |
19: 43,879,005 (GRCm39) |
H22P |
unknown |
Het |
| Duxf4 |
T |
G |
10: 58,072,148 (GRCm39) |
Q22P |
possibly damaging |
Het |
| Fabp4 |
T |
A |
3: 10,270,342 (GRCm39) |
T103S |
probably benign |
Het |
| Fam43a |
T |
C |
16: 30,420,106 (GRCm39) |
L230P |
probably damaging |
Het |
| Fank1 |
T |
A |
7: 133,478,493 (GRCm39) |
Y186N |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,044,555 (GRCm39) |
R286K |
possibly damaging |
Het |
| Fmnl2 |
G |
A |
2: 52,997,678 (GRCm39) |
|
probably null |
Het |
| Gli2 |
T |
A |
1: 118,765,701 (GRCm39) |
S817C |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gstt2 |
C |
G |
10: 75,668,291 (GRCm39) |
A155P |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,244,757 (GRCm39) |
M213K |
probably benign |
Het |
| Jak1 |
G |
A |
4: 101,036,738 (GRCm39) |
R301* |
probably null |
Het |
| Kdsr |
T |
C |
1: 106,652,727 (GRCm39) |
T302A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,331,123 (GRCm39) |
E460G |
probably damaging |
Het |
| Larp1b |
G |
A |
3: 40,991,245 (GRCm39) |
R193H |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,324,560 (GRCm39) |
K487R |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,809,029 (GRCm39) |
E205G |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,431,580 (GRCm39) |
S1193T |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,852 (GRCm39) |
T268S |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,529 (GRCm39) |
C105* |
probably null |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Padi1 |
T |
C |
4: 140,542,014 (GRCm39) |
H636R |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,097,293 (GRCm39) |
I266T |
probably damaging |
Het |
| Rell2 |
A |
T |
18: 38,090,665 (GRCm39) |
Q114L |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,426,289 (GRCm39) |
|
probably null |
Het |
| Rpia |
T |
C |
6: 70,748,002 (GRCm39) |
N265D |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,723,645 (GRCm39) |
D16G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,006,005 (GRCm39) |
|
probably null |
Het |
| Slc6a3 |
T |
A |
13: 73,705,200 (GRCm39) |
D230E |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Taf6l |
A |
G |
19: 8,750,714 (GRCm39) |
I120T |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,327 (GRCm39) |
V143A |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,969,624 (GRCm39) |
D328G |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,029,523 (GRCm39) |
S1836P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,402,440 (GRCm39) |
L64F |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,601 (GRCm39) |
Y212* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,250,464 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
A |
T |
4: 145,349,547 (GRCm39) |
D328V |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,535 (GRCm39) |
H231Q |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,369 (GRCm39) |
T334S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,536 (GRCm39) |
M207V |
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 |
|
IGL02029:Fam83h
|
APN |
15 |
75,878,287 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTAGGCCCAGTCTTCGAAG -3'
(R):5'- ACACACCAGCTGCCTTATTC -3'
Sequencing Primer
(F):5'- AAAGTGAGACTGCCTCTGC -3'
(R):5'- AGCTGCCTTATTCTGAGCCAAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation