Incidental Mutation 'R1319:Fam169a'
ID |
157642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam169a
|
Ensembl Gene |
ENSMUSG00000041817 |
Gene Name |
family with sequence similarity 169, member A |
Synonyms |
B230112C05Rik |
MMRRC Submission |
039385-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R1319 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
97203795-97266801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97234070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[ENSMUST00000071118]
[ENSMUST00000169863]
|
AlphaFold |
Q5XG69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042517
AA Change: V114A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043738 Gene: ENSMUSG00000041817 AA Change: V114A
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 damaging
Transcript: ENSMUST00000169863
AA Change: V114A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126209 Gene: ENSMUSG00000041817 AA Change: V114A
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
Ang2 |
T |
C |
14: 51,433,164 (GRCm39) |
T73A |
probably benign |
Het |
Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
Epha10 |
G |
A |
4: 124,775,707 (GRCm39) |
V14I |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pyroxd1 |
T |
C |
6: 142,304,874 (GRCm39) |
V367A |
probably benign |
Het |
R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,136,847 (GRCm39) |
C310R |
probably damaging |
Het |
Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably damaging |
Het |
|
Other mutations in Fam169a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Fam169a
|
APN |
13 |
97,259,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01380:Fam169a
|
APN |
13 |
97,228,459 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01761:Fam169a
|
APN |
13 |
97,228,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02628:Fam169a
|
APN |
13 |
97,247,796 (GRCm39) |
splice site |
probably benign |
|
IGL02739:Fam169a
|
APN |
13 |
97,230,563 (GRCm39) |
splice site |
probably benign |
|
IGL03171:Fam169a
|
APN |
13 |
97,246,522 (GRCm39) |
splice site |
probably benign |
|
IGL03306:Fam169a
|
APN |
13 |
97,243,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03377:Fam169a
|
APN |
13 |
97,228,381 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02980:Fam169a
|
UTSW |
13 |
97,250,188 (GRCm39) |
critical splice donor site |
probably null |
|
R0282:Fam169a
|
UTSW |
13 |
97,234,223 (GRCm39) |
splice site |
probably benign |
|
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R2037:Fam169a
|
UTSW |
13 |
97,243,600 (GRCm39) |
missense |
probably benign |
0.37 |
R2380:Fam169a
|
UTSW |
13 |
97,255,043 (GRCm39) |
splice site |
probably benign |
|
R3805:Fam169a
|
UTSW |
13 |
97,234,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4434:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Fam169a
|
UTSW |
13 |
97,234,093 (GRCm39) |
missense |
probably benign |
0.02 |
R4896:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Fam169a
|
UTSW |
13 |
97,255,004 (GRCm39) |
missense |
probably benign |
0.01 |
R5370:Fam169a
|
UTSW |
13 |
97,243,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Fam169a
|
UTSW |
13 |
97,230,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Fam169a
|
UTSW |
13 |
97,230,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Fam169a
|
UTSW |
13 |
97,263,196 (GRCm39) |
nonsense |
probably null |
|
R8322:Fam169a
|
UTSW |
13 |
97,259,260 (GRCm39) |
missense |
probably benign |
0.00 |
R8493:Fam169a
|
UTSW |
13 |
97,259,367 (GRCm39) |
missense |
probably benign |
0.00 |
R8698:Fam169a
|
UTSW |
13 |
97,243,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:Fam169a
|
UTSW |
13 |
97,250,628 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9231:Fam169a
|
UTSW |
13 |
97,254,967 (GRCm39) |
missense |
probably benign |
0.08 |
R9479:Fam169a
|
UTSW |
13 |
97,250,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9479:Fam169a
|
UTSW |
13 |
97,246,543 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTTGGAGTGTTTTGCATGACAG -3'
(R):5'- AGTGCGAGCATCTCAATTTGCTCTC -3'
Sequencing Primer
(F):5'- TTTGCATGACAGTAGGAGCTGAG -3'
(R):5'- GAGTCAAAATGGAGATTCTGTAACAC -3'
|
Posted On |
2014-02-18 |