Incidental Mutation 'R0790:Fam83h'
| ID |
76451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83h
|
| Ensembl Gene |
ENSMUSG00000046761 |
| Gene Name |
family with sequence similarity 83, member H |
| Synonyms |
|
| MMRRC Submission |
038970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R0790 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75875241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 699
(V699I)
|
| 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: V699I
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: V699I
| 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: V699I
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: V699I
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
| Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Chit1 |
T |
G |
1: 134,066,490 (GRCm39) |
V2G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Cpsf4l |
A |
G |
11: 113,597,234 (GRCm39) |
|
probably benign |
Het |
| Etaa1 |
G |
T |
11: 17,896,051 (GRCm39) |
Q689K |
probably benign |
Het |
| Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
| Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
| Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
| Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
| Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,548,653 (GRCm39) |
V407A |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,693,481 (GRCm39) |
L64W |
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 |
|
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'- TCAAGCAAGCAACTCTCAAGGCTG -3'
(R):5'- GCGTTTTCCATGCCAAGCAACC -3'
Sequencing Primer
(F):5'- TGGGACACTACAGCCTTGC -3'
(R):5'- GGTCTACCAATGGAGGCTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation