Incidental Mutation 'R0318:Fam83h'
| ID |
25546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83h
|
| Ensembl Gene |
ENSMUSG00000046761 |
| Gene Name |
family with sequence similarity 83, member H |
| Synonyms |
|
| MMRRC Submission |
038528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R0318 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75875478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 620
(S620P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060807]
[ENSMUST00000089669]
[ENSMUST00000170153]
|
| AlphaFold |
Q148V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060807
AA Change: S620P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: S620P
| 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 |
noncoding transcript
Transcript: ENSMUST00000160092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170153
AA Change: S620P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: S620P
| 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 |
probably benign
Transcript: ENSMUST00000230929
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
| Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
| Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
| Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
| Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
| Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
| Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
| Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
| Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
| Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
| Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
| Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGTGATGAGCGCAACCTGG -3'
(R):5'- TTCCATGCCAAGCAACCTTGAGAC -3'
Sequencing Primer
(F):5'- AGCGCAACCTGGAGCTG -3'
(R):5'- AGCAACCTTGAGACAAGGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation