Incidental Mutation 'IGL02060:Fam13c'
ID |
185385 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam13c
|
Ensembl Gene |
ENSMUSG00000043259 |
Gene Name |
family with sequence similarity 13, member C |
Synonyms |
C030038O19Rik, 1200015N20Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL02060
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
70276311-70394566 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70388971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 498
(E498V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046513]
[ENSMUST00000062883]
[ENSMUST00000105436]
[ENSMUST00000173042]
|
AlphaFold |
Q9DBR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046513
|
SMART Domains |
Protein: ENSMUSP00000045807 Gene: ENSMUSG00000037747
Domain | Start | End | E-Value | Type |
FN3
|
49 |
142 |
6.16e-2 |
SMART |
Blast:FN3
|
188 |
262 |
2e-45 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062883
AA Change: E499V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051375 Gene: ENSMUSG00000043259 AA Change: E499V
Domain | Start | End | E-Value | Type |
low complexity region
|
200 |
222 |
N/A |
INTRINSIC |
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
529 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105436
AA Change: E417V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101076 Gene: ENSMUSG00000043259 AA Change: E417V
Domain | Start | End | E-Value | Type |
low complexity region
|
118 |
140 |
N/A |
INTRINSIC |
low complexity region
|
192 |
212 |
N/A |
INTRINSIC |
coiled coil region
|
222 |
290 |
N/A |
INTRINSIC |
coiled coil region
|
447 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173042
AA Change: E498V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134648 Gene: ENSMUSG00000043259 AA Change: E498V
Domain | Start | End | E-Value | Type |
low complexity region
|
200 |
222 |
N/A |
INTRINSIC |
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
528 |
556 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219514
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
A |
16: 90,852,603 (GRCm39) |
I178F |
probably damaging |
Het |
Aff1 |
T |
C |
5: 103,931,715 (GRCm39) |
V111A |
possibly damaging |
Het |
Aox1 |
T |
G |
1: 58,137,114 (GRCm39) |
I1168R |
possibly damaging |
Het |
Atf6 |
T |
C |
1: 170,646,989 (GRCm39) |
R295G |
probably damaging |
Het |
Blm |
C |
A |
7: 80,164,328 (GRCm39) |
|
probably benign |
Het |
Cse1l |
A |
T |
2: 166,772,573 (GRCm39) |
L413F |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,672,666 (GRCm39) |
V1024A |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,064,420 (GRCm39) |
E4792G |
probably damaging |
Het |
Gramd1a |
A |
T |
7: 30,829,996 (GRCm39) |
L151* |
probably null |
Het |
Igbp1b |
G |
T |
6: 138,634,982 (GRCm39) |
A154E |
probably damaging |
Het |
Itga9 |
A |
G |
9: 118,490,500 (GRCm39) |
K277R |
probably damaging |
Het |
Klra10 |
T |
C |
6: 130,249,688 (GRCm39) |
Y199C |
probably damaging |
Het |
Lgalsl2 |
A |
G |
7: 5,362,563 (GRCm39) |
T65A |
probably damaging |
Het |
Mospd3 |
T |
C |
5: 137,598,266 (GRCm39) |
Y85C |
probably damaging |
Het |
Nol6 |
C |
T |
4: 41,117,700 (GRCm39) |
A887T |
probably damaging |
Het |
Or4a27 |
A |
T |
2: 88,559,907 (GRCm39) |
F12Y |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,824 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p57 |
G |
T |
7: 107,665,878 (GRCm39) |
F42L |
probably benign |
Het |
Or9g4 |
C |
T |
2: 85,505,178 (GRCm39) |
V106I |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,619,469 (GRCm39) |
T420A |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,526,546 (GRCm39) |
V646A |
probably benign |
Het |
Prkg2 |
A |
G |
5: 99,172,374 (GRCm39) |
S114P |
probably benign |
Het |
Rela |
G |
T |
19: 5,688,628 (GRCm39) |
K28N |
probably damaging |
Het |
Rhbdf2 |
G |
T |
11: 116,491,452 (GRCm39) |
A598E |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,762,450 (GRCm39) |
D1454N |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 141,938,767 (GRCm39) |
L397F |
possibly damaging |
Het |
Sh3pxd2a |
C |
T |
19: 47,361,817 (GRCm39) |
|
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,795,453 (GRCm39) |
V518E |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,700,134 (GRCm39) |
M133L |
probably benign |
Het |
Snapc1 |
A |
G |
12: 74,014,810 (GRCm39) |
Y105C |
probably damaging |
Het |
Sult2a8 |
A |
G |
7: 14,159,326 (GRCm39) |
S98P |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,111,261 (GRCm39) |
M4L |
probably benign |
Het |
Trim71 |
T |
C |
9: 114,342,321 (GRCm39) |
I654V |
possibly damaging |
Het |
Uroc1 |
A |
G |
6: 90,315,237 (GRCm39) |
S133G |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,741,516 (GRCm39) |
N76S |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,330,634 (GRCm39) |
S910G |
probably damaging |
Het |
|
Other mutations in Fam13c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01106:Fam13c
|
APN |
10 |
70,284,646 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03218:Fam13c
|
APN |
10 |
70,284,599 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0270:Fam13c
|
UTSW |
10 |
70,380,343 (GRCm39) |
missense |
probably benign |
0.05 |
R0418:Fam13c
|
UTSW |
10 |
70,370,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Fam13c
|
UTSW |
10 |
70,372,182 (GRCm39) |
splice site |
probably benign |
|
R1712:Fam13c
|
UTSW |
10 |
70,390,403 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1967:Fam13c
|
UTSW |
10 |
70,387,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Fam13c
|
UTSW |
10 |
70,378,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R3836:Fam13c
|
UTSW |
10 |
70,378,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R3837:Fam13c
|
UTSW |
10 |
70,378,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Fam13c
|
UTSW |
10 |
70,378,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Fam13c
|
UTSW |
10 |
70,378,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Fam13c
|
UTSW |
10 |
70,390,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R4768:Fam13c
|
UTSW |
10 |
70,387,580 (GRCm39) |
missense |
probably damaging |
0.96 |
R4951:Fam13c
|
UTSW |
10 |
70,387,621 (GRCm39) |
critical splice donor site |
probably null |
|
R5259:Fam13c
|
UTSW |
10 |
70,276,893 (GRCm39) |
missense |
probably benign |
0.16 |
R5384:Fam13c
|
UTSW |
10 |
70,388,899 (GRCm39) |
missense |
probably benign |
0.03 |
R5715:Fam13c
|
UTSW |
10 |
70,370,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R6322:Fam13c
|
UTSW |
10 |
70,334,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R6404:Fam13c
|
UTSW |
10 |
70,284,646 (GRCm39) |
critical splice donor site |
probably null |
|
R6723:Fam13c
|
UTSW |
10 |
70,390,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R7111:Fam13c
|
UTSW |
10 |
70,390,336 (GRCm39) |
missense |
probably benign |
0.23 |
R8253:Fam13c
|
UTSW |
10 |
70,389,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Fam13c
|
UTSW |
10 |
70,388,983 (GRCm39) |
missense |
probably benign |
0.00 |
R8748:Fam13c
|
UTSW |
10 |
70,378,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Fam13c
|
UTSW |
10 |
70,286,978 (GRCm39) |
missense |
probably benign |
0.08 |
R9206:Fam13c
|
UTSW |
10 |
70,388,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9208:Fam13c
|
UTSW |
10 |
70,388,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |