Incidental Mutation 'R2380:Fam169a'
ID |
248442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam169a
|
Ensembl Gene |
ENSMUSG00000041817 |
Gene Name |
family with sequence similarity 169, member A |
Synonyms |
B230112C05Rik |
MMRRC Submission |
040356-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
97203795-97266801 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 97255043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[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: 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
R1319:Fam169a
|
UTSW |
13 |
97,234,070 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGCCCGACTATACCAGAGTTC -3'
(R):5'- TCAACATCTGTGTACTTGCTAAGTG -3'
Sequencing Primer
(F):5'- ACCAGAGTTCCTGATTTCATCAACTG -3'
(R):5'- ACTTGCTAAGTGTATTTAATTCCACC -3'
|
Posted On |
2014-11-11 |