Incidental Mutation 'R8910:Fam83h'
| ID |
678583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83h
|
| Ensembl Gene |
ENSMUSG00000046761 |
| Gene Name |
family with sequence similarity 83, member H |
| Synonyms |
|
| MMRRC Submission |
068701-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R8910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75874844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 831
(G831D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060807]
[ENSMUST00000089669]
[ENSMUST00000170153]
|
| AlphaFold |
Q148V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060807
AA Change: G831D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: G831D
| 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
AA Change: G831D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: G831D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,768 (GRCm39) |
I1058V |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,189,030 (GRCm39) |
E809G |
probably damaging |
Het |
| Akap12 |
A |
T |
10: 4,263,822 (GRCm39) |
Q77L |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,102,599 (GRCm39) |
V288A |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,389,510 (GRCm39) |
E586* |
probably null |
Het |
| Anxa2r1 |
T |
A |
13: 120,508,356 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,934,108 (GRCm39) |
F598S |
|
Het |
| Btc |
A |
C |
5: 91,508,671 (GRCm39) |
M157R |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,223 (GRCm39) |
N908S |
probably benign |
Het |
| Cd244a |
C |
A |
1: 171,386,941 (GRCm39) |
H17N |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,575,240 (GRCm39) |
L5P |
probably benign |
Het |
| Cep15 |
A |
G |
14: 12,285,444 (GRCm38) |
H10R |
probably benign |
Het |
| Cept1 |
A |
C |
3: 106,446,565 (GRCm39) |
S94A |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,632,497 (GRCm39) |
M507T |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,799,706 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,815 (GRCm39) |
T712I |
probably damaging |
Het |
| Dnhd1 |
A |
C |
7: 105,332,904 (GRCm39) |
H155P |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,167 (GRCm39) |
K38R |
probably benign |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,023,299 (GRCm39) |
L47P |
probably damaging |
Het |
| Fabp6 |
C |
T |
11: 43,492,335 (GRCm39) |
A2T |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,681 (GRCm39) |
T143M |
probably damaging |
Het |
| Fermt2 |
G |
A |
14: 45,702,389 (GRCm39) |
A465V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,715,855 (GRCm39) |
S358P |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,868,694 (GRCm39) |
G1429V |
probably benign |
Het |
| Fst |
T |
A |
13: 114,590,245 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
T |
C |
6: 87,030,787 (GRCm39) |
I57T |
probably benign |
Het |
| Gimap6 |
A |
G |
6: 48,679,388 (GRCm39) |
I216T |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,511 (GRCm39) |
N73I |
possibly damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,413 (GRCm39) |
T286I |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,369,202 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
C |
6: 129,993,647 (GRCm39) |
E208G |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,213 (GRCm39) |
T753S |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,620,526 (GRCm39) |
E13G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,960,855 (GRCm39) |
I806V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,009 (GRCm39) |
N142S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,464,280 (GRCm39) |
T1112A |
probably benign |
Het |
| Or4b1b |
C |
A |
2: 90,126,848 (GRCm39) |
R119L |
possibly damaging |
Het |
| Pelp1 |
A |
T |
11: 70,287,461 (GRCm39) |
M449K |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,768 (GRCm39) |
V795A |
probably damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,146,290 (GRCm39) |
M372I |
probably null |
Het |
| Ptprk |
T |
C |
10: 28,368,993 (GRCm39) |
V655A |
possibly damaging |
Het |
| Rad51d |
T |
C |
11: 82,773,793 (GRCm39) |
R166G |
probably damaging |
Het |
| Rbm19 |
T |
A |
5: 120,271,844 (GRCm39) |
Y650N |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,741 (GRCm39) |
K204E |
|
Het |
| Ryr1 |
A |
G |
7: 28,771,340 (GRCm39) |
L2567P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,883 (GRCm39) |
S599C |
probably damaging |
Het |
| Slc7a15 |
T |
A |
12: 8,589,117 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,182,716 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,806,938 (GRCm39) |
T200A |
probably benign |
Het |
| Tex21 |
C |
T |
12: 76,263,533 (GRCm39) |
|
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,642,666 (GRCm39) |
H515R |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,252 (GRCm39) |
Q1237R |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,151,401 (GRCm39) |
E695G |
possibly damaging |
Het |
| Wtip |
G |
A |
7: 33,832,063 (GRCm39) |
P141L |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,627,741 (GRCm39) |
M718K |
possibly damaging |
Het |
| Zbtb25 |
A |
C |
12: 76,395,908 (GRCm39) |
V438G |
probably damaging |
Het |
| Zfp444 |
T |
C |
7: 6,187,026 (GRCm39) |
L46P |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,233 (GRCm39) |
H1060R |
probably benign |
Het |
| Zkscan14 |
A |
G |
5: 145,132,190 (GRCm39) |
F447S |
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 |
|
|
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 |
|
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'- CATCAATCCTGTGGTTGGGC -3'
(R):5'- GAGAAATACAAGGGCCCTGC -3'
Sequencing Primer
(F):5'- TGCCCCTCCGATTGGGAAATC -3'
(R):5'- AGCAAGGCTGTAGTGTCCCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation