Incidental Mutation 'R8253:Fam13c'
ID |
640140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13c
|
Ensembl Gene |
ENSMUSG00000043259 |
Gene Name |
family with sequence similarity 13, member C |
Synonyms |
C030038O19Rik, 1200015N20Rik |
MMRRC Submission |
067679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R8253 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
70276311-70394566 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70389033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 520
(S520P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051375
(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: S520P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051375 Gene: ENSMUSG00000043259 AA Change: S520P
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: S438P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101076 Gene: ENSMUSG00000043259 AA Change: S438P
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: S519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134648 Gene: ENSMUSG00000043259 AA Change: S519P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l1 |
T |
C |
18: 61,874,702 (GRCm39) |
E493G |
probably benign |
Het |
Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,661,207 (GRCm39) |
S1106T |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
Elf1 |
T |
C |
14: 79,773,792 (GRCm39) |
M1T |
probably null |
Het |
Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
Tmem145 |
T |
G |
7: 25,006,939 (GRCm39) |
Y114D |
probably damaging |
Het |
Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGACATGAAGCACTCTG -3'
(R):5'- TTCCCAGTTGAGAAGCCAAC -3'
Sequencing Primer
(F):5'- CATGAAGCACTCTGTGACTATTTGGC -3'
(R):5'- AAGCCAACTGGATGGTGCATTTTTAG -3'
|
Posted On |
2020-07-28 |