Incidental Mutation 'IGL01106:Fam13c'
| ID |
52104 |
| 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 # |
IGL01106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
70276311-70394566 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 70284646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062883]
[ENSMUST00000105436]
[ENSMUST00000173042]
|
| AlphaFold |
Q9DBR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062883
|
| SMART Domains |
Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259
| 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 null
Transcript: ENSMUST00000105436
|
| SMART Domains |
Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259
| 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 null
Transcript: ENSMUST00000173042
|
| SMART Domains |
Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259
| 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: ENSMUST00000218542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220442
|
| Meta Mutation Damage Score |
0.9480 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg13 |
T |
C |
2: 91,526,297 (GRCm39) |
D12G |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,221,120 (GRCm39) |
L3163P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,449,622 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
C |
T |
15: 98,548,821 (GRCm39) |
R327Q |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,931,853 (GRCm39) |
E91K |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,193,626 (GRCm39) |
T1398A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,494 (GRCm39) |
T1793A |
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,084 (GRCm39) |
K262E |
probably benign |
Het |
| Hadh |
A |
T |
3: 131,034,619 (GRCm39) |
Y226N |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,720 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,187,792 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,855,970 (GRCm39) |
I202L |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Kcna3 |
A |
G |
3: 106,945,180 (GRCm39) |
E481G |
possibly damaging |
Het |
| Kdm1a |
A |
G |
4: 136,299,639 (GRCm39) |
|
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,232,438 (GRCm39) |
S321C |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,900,666 (GRCm39) |
K255E |
probably benign |
Het |
| Lhfpl4 |
T |
A |
6: 113,170,824 (GRCm39) |
T121S |
probably benign |
Het |
| Lsm11 |
G |
A |
11: 45,824,490 (GRCm39) |
Q346* |
probably null |
Het |
| Mcoln3 |
A |
G |
3: 145,843,019 (GRCm39) |
T368A |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,350,452 (GRCm38) |
|
noncoding transcript |
Het |
| Nol8 |
A |
G |
13: 49,807,957 (GRCm39) |
I58V |
possibly damaging |
Het |
| Or5al6 |
C |
T |
2: 85,976,560 (GRCm39) |
V173M |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,098,116 (GRCm39) |
F384S |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,678 (GRCm39) |
I509L |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,449,671 (GRCm39) |
D1019V |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,629,754 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
T |
A |
12: 30,307,987 (GRCm39) |
K233* |
probably null |
Het |
| Syt5 |
T |
C |
7: 4,544,156 (GRCm39) |
T295A |
probably damaging |
Het |
|
| Other mutations in Fam13c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02060:Fam13c
|
APN |
10 |
70,388,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-06-21 |
Incidental Mutation