Incidental Mutation 'R6404:Fam13c'
| ID |
518903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13c
|
| Ensembl Gene |
ENSMUSG00000043259 |
| Gene Name |
family with sequence similarity 13, member C |
| Synonyms |
C030038O19Rik, 1200015N20Rik |
| MMRRC Submission |
044549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R6404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,484,892 (GRCm39) |
D1540G |
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,062,509 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
A |
15: 77,373,241 (GRCm39) |
F292L |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,719 (GRCm39) |
Y243* |
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,861,416 (GRCm39) |
N660D |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,538 (GRCm39) |
T466A |
probably benign |
Het |
| Ccdc74a |
A |
T |
16: 17,467,889 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Cd3e |
T |
A |
9: 44,912,426 (GRCm39) |
E106V |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,415,743 (GRCm39) |
Y2691H |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,820 (GRCm39) |
R2786G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,059,606 (GRCm39) |
T768A |
probably benign |
Het |
| Endou |
T |
A |
15: 97,610,012 (GRCm39) |
Q428L |
probably damaging |
Het |
| Fhip1b |
G |
A |
7: 105,034,198 (GRCm39) |
R478* |
probably null |
Het |
| Frmd5 |
G |
A |
2: 121,379,699 (GRCm39) |
R70* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm4131 |
T |
A |
14: 62,718,598 (GRCm39) |
R3* |
probably null |
Het |
| Habp4 |
A |
G |
13: 64,330,000 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ift81 |
A |
T |
5: 122,749,069 (GRCm39) |
D27E |
probably damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,430,083 (GRCm39) |
I107V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,865,985 (GRCm39) |
I298T |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,361,825 (GRCm39) |
D199G |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,848,739 (GRCm39) |
S3F |
possibly damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,482 (GRCm39) |
E238G |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,737 (GRCm39) |
Y901C |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,097,220 (GRCm39) |
M121V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 97,989,314 (GRCm39) |
G278D |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,906 (GRCm39) |
I157M |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,890,107 (GRCm39) |
S172T |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,688 (GRCm39) |
Y83N |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,945,705 (GRCm39) |
I2079F |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,851,839 (GRCm39) |
F17L |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,799,806 (GRCm39) |
T121I |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,046,330 (GRCm39) |
Y251C |
probably damaging |
Het |
| Slmap |
T |
A |
14: 26,143,566 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,853,985 (GRCm39) |
L319Q |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,793 (GRCm39) |
I457F |
probably damaging |
Het |
| Zfp57 |
A |
T |
17: 37,320,716 (GRCm39) |
H190L |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,179 (GRCm39) |
S271P |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,734,765 (GRCm39) |
H474Q |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGGTGAGGATCATTGC -3'
(R):5'- CTGACACGTTCAATGTGGTG -3'
Sequencing Primer
(F):5'- GCGTTTTATTATTTTTCCACGCTAG -3'
(R):5'- CACGTTCAATGTGGTGAATAACG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation