Incidental Mutation 'R6488:Fam83h'
| ID |
522568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83h
|
| Ensembl Gene |
ENSMUSG00000046761 |
| Gene Name |
family with sequence similarity 83, member H |
| Synonyms |
|
| MMRRC Submission |
044620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R6488 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75872942-75886185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75873902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1145
(E1145G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060807]
[ENSMUST00000089669]
[ENSMUST00000170153]
|
| AlphaFold |
Q148V8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060807
AA Change: E1145G
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: E1145G
| 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 |
possibly damaging
Transcript: ENSMUST00000170153
AA Change: E1145G
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: E1145G
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
96% (65/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Abhd15 |
T |
C |
11: 77,406,848 (GRCm39) |
F275S |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,053,535 (GRCm39) |
T27A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,720,967 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
T |
C |
7: 141,182,220 (GRCm39) |
V183A |
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,651,123 (GRCm39) |
A134V |
probably benign |
Het |
| Col3a1 |
C |
A |
1: 45,370,694 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
A |
G |
9: 57,527,926 (GRCm39) |
S10P |
possibly damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,425,276 (GRCm39) |
V127A |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 102,001,422 (GRCm39) |
|
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,963 (GRCm39) |
D989G |
probably damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,100,321 (GRCm39) |
|
probably null |
Het |
| Fcnb |
T |
C |
2: 27,968,301 (GRCm39) |
K219E |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,777,891 (GRCm39) |
E355G |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,276,253 (GRCm39) |
H746R |
probably benign |
Het |
| Glod4 |
A |
G |
11: 76,128,611 (GRCm39) |
V74A |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 118,202,125 (GRCm39) |
I445T |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,355,946 (GRCm39) |
D337G |
probably damaging |
Het |
| Hnf1a |
T |
C |
5: 115,094,020 (GRCm39) |
T190A |
probably benign |
Het |
| Iqgap1 |
G |
C |
7: 80,380,074 (GRCm39) |
T1129R |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,244,606 (GRCm39) |
F299L |
possibly damaging |
Het |
| Kif26b |
T |
C |
1: 178,357,138 (GRCm39) |
V4A |
unknown |
Het |
| Kifbp |
C |
A |
10: 62,395,437 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap4-1 |
G |
T |
11: 99,518,903 (GRCm39) |
R36S |
unknown |
Het |
| Lrpprc |
T |
C |
17: 85,058,781 (GRCm39) |
N693S |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,791,388 (GRCm39) |
N2424K |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,318,626 (GRCm39) |
V466D |
probably damaging |
Het |
| Mpdz |
G |
T |
4: 81,205,970 (GRCm39) |
A1784E |
probably benign |
Het |
| Mpv17l |
G |
A |
16: 13,764,452 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
G |
A |
8: 41,494,545 (GRCm39) |
S29L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,313 (GRCm39) |
H691L |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,625,264 (GRCm39) |
T2276A |
probably damaging |
Het |
| Npas4 |
A |
G |
19: 5,036,011 (GRCm39) |
S718P |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,009,170 (GRCm39) |
N320K |
possibly damaging |
Het |
| Nup214 |
T |
A |
2: 31,881,384 (GRCm39) |
I414N |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,285 (GRCm39) |
I110T |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,981 (GRCm39) |
Y216H |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,888,528 (GRCm39) |
Y8H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,964 (GRCm39) |
N294Y |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,285,899 (GRCm39) |
M190T |
probably damaging |
Het |
| Pogk |
T |
C |
1: 166,226,991 (GRCm39) |
I387V |
possibly damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,152,741 (GRCm39) |
L294P |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,357 (GRCm39) |
H152R |
possibly damaging |
Het |
| Ptprn2 |
T |
A |
12: 116,835,658 (GRCm39) |
I331K |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,370,673 (GRCm39) |
Y591* |
probably null |
Het |
| Ptprz1 |
T |
A |
6: 23,001,516 (GRCm39) |
L1202* |
probably null |
Het |
| Rab37 |
A |
G |
11: 115,048,789 (GRCm39) |
T73A |
probably benign |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,161 (GRCm39) |
S694R |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,340,951 (GRCm39) |
D148E |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,494,565 (GRCm39) |
R137H |
probably damaging |
Het |
| Serpinf2 |
A |
G |
11: 75,328,329 (GRCm39) |
V73A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,227 (GRCm39) |
N506S |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,862,602 (GRCm39) |
T196A |
possibly damaging |
Het |
| St6galnac3 |
C |
T |
3: 153,117,394 (GRCm39) |
A110T |
probably damaging |
Het |
| Thsd1 |
T |
C |
8: 22,733,733 (GRCm39) |
V260A |
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,538 (GRCm39) |
V169D |
possibly damaging |
Het |
| Trav16n |
A |
G |
14: 53,589,042 (GRCm39) |
E106G |
probably benign |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,135 (GRCm39) |
I108T |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,644 (GRCm39) |
I686V |
probably damaging |
Het |
| Zdhhc20 |
C |
T |
14: 58,078,289 (GRCm39) |
R329K |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,777,129 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
C |
T |
7: 140,392,663 (GRCm39) |
R232H |
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 |
|
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'- TGCTTTTGAATGTGCCCAGG -3'
(R):5'- CCATTCTGGAGCAAATTAGTGC -3'
Sequencing Primer
(F):5'- AATGTGCCCAGGATCTTGG -3'
(R):5'- CTGGAGCAAATTAGTGCCCACG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation