Incidental Mutation 'IGL02739:Fam169a'
| ID |
305825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam169a
|
| Ensembl Gene |
ENSMUSG00000041817 |
| Gene Name |
family with sequence similarity 169, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL02739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
97067286-97131013 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 97094055 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[ENSMUST00000071118]
[ENSMUST00000169863]
|
| AlphaFold |
Q5XG69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042517
|
| SMART Domains |
Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071118
|
| SMART Domains |
Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
19 |
132 |
2.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169863
|
| SMART Domains |
Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,878,517 (GRCm38) |
C887S |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,570,156 (GRCm38) |
E352* |
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,378,012 (GRCm38) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 108,112,546 (GRCm38) |
H2002Q |
probably benign |
Het |
| Chtop |
T |
A |
3: 90,502,250 (GRCm38) |
Q165L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,286,780 (GRCm38) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,161,844 (GRCm38) |
T184A |
probably benign |
Het |
| Defb36 |
T |
C |
2: 152,604,519 (GRCm38) |
L11P |
unknown |
Het |
| Dock8 |
A |
G |
19: 25,188,488 (GRCm38) |
E1912G |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,923,728 (GRCm38) |
Y106H |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 86,805,282 (GRCm38) |
T103A |
probably damaging |
Het |
| Epcam |
A |
T |
17: 87,640,494 (GRCm38) |
T131S |
probably benign |
Het |
| Gh |
T |
A |
11: 106,301,733 (GRCm38) |
|
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,628,943 (GRCm38) |
K399* |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,498,215 (GRCm38) |
I466T |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,574,851 (GRCm38) |
V409A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 46,044,307 (GRCm38) |
|
probably null |
Het |
| Nr2c1 |
T |
A |
10: 94,156,972 (GRCm38) |
M16K |
probably damaging |
Het |
| Nxph2 |
A |
T |
2: 23,399,900 (GRCm38) |
Q88L |
probably benign |
Het |
| Or51a39 |
A |
G |
7: 102,714,314 (GRCm38) |
I33T |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,819,694 (GRCm38) |
R680S |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,540,950 (GRCm38) |
N2325I |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,760,509 (GRCm38) |
|
probably null |
Het |
| Ppp1r42 |
T |
A |
1: 9,968,853 (GRCm38) |
K347N |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,851,585 (GRCm38) |
V407A |
possibly damaging |
Het |
| Psmb8 |
C |
A |
17: 34,200,754 (GRCm38) |
S194* |
probably null |
Het |
| Rnf214 |
T |
C |
9: 45,869,474 (GRCm38) |
I406V |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 37,893,821 (GRCm38) |
S3L |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,290,072 (GRCm38) |
A539T |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,451,161 (GRCm38) |
Y57C |
probably damaging |
Het |
| Susd5 |
A |
G |
9: 114,096,033 (GRCm38) |
E328G |
possibly damaging |
Het |
| Syngr3 |
T |
C |
17: 24,686,398 (GRCm38) |
T175A |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,856,080 (GRCm38) |
Q390L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 33,581,693 (GRCm38) |
T2423A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 64,927,126 (GRCm38) |
N36S |
probably benign |
Het |
| Uchl4 |
C |
T |
9: 64,235,537 (GRCm38) |
T100M |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,305,129 (GRCm38) |
K11R |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,879,900 (GRCm38) |
D3040E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 30,242,460 (GRCm38) |
Y640* |
probably null |
Het |
| Zkscan17 |
T |
G |
11: 59,503,526 (GRCm38) |
E83A |
probably damaging |
Het |
|
| Other mutations in Fam169a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Fam169a
|
APN |
13 |
97,122,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01380:Fam169a
|
APN |
13 |
97,091,951 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01761:Fam169a
|
APN |
13 |
97,091,918 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02628:Fam169a
|
APN |
13 |
97,111,288 (GRCm38) |
splice site |
probably benign |
|
|
IGL03171:Fam169a
|
APN |
13 |
97,110,014 (GRCm38) |
splice site |
probably benign |
|
|
IGL03306:Fam169a
|
APN |
13 |
97,106,989 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL03377:Fam169a
|
APN |
13 |
97,091,873 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02980:Fam169a
|
UTSW |
13 |
97,113,680 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0282:Fam169a
|
UTSW |
13 |
97,097,715 (GRCm38) |
splice site |
probably benign |
|
|
R1319:Fam169a
|
UTSW |
13 |
97,097,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1468:Fam169a
|
UTSW |
13 |
97,118,530 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1468:Fam169a
|
UTSW |
13 |
97,118,530 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2037:Fam169a
|
UTSW |
13 |
97,107,092 (GRCm38) |
missense |
probably benign |
0.37 |
|
R2380:Fam169a
|
UTSW |
13 |
97,118,535 (GRCm38) |
splice site |
probably benign |
|
|
R3805:Fam169a
|
UTSW |
13 |
97,097,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4434:Fam169a
|
UTSW |
13 |
97,126,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4435:Fam169a
|
UTSW |
13 |
97,126,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4437:Fam169a
|
UTSW |
13 |
97,126,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4590:Fam169a
|
UTSW |
13 |
97,097,585 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4896:Fam169a
|
UTSW |
13 |
97,097,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5004:Fam169a
|
UTSW |
13 |
97,097,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5276:Fam169a
|
UTSW |
13 |
97,118,496 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5370:Fam169a
|
UTSW |
13 |
97,106,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5687:Fam169a
|
UTSW |
13 |
97,093,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6151:Fam169a
|
UTSW |
13 |
97,093,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7711:Fam169a
|
UTSW |
13 |
97,126,688 (GRCm38) |
nonsense |
probably null |
|
|
R8322:Fam169a
|
UTSW |
13 |
97,122,752 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8493:Fam169a
|
UTSW |
13 |
97,122,859 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8698:Fam169a
|
UTSW |
13 |
97,107,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8794:Fam169a
|
UTSW |
13 |
97,114,120 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9231:Fam169a
|
UTSW |
13 |
97,118,459 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9479:Fam169a
|
UTSW |
13 |
97,114,187 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9479:Fam169a
|
UTSW |
13 |
97,110,035 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2015-04-16 |
Incidental Mutation