Incidental Mutation 'R1614:Fam13a'
ID |
176992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13a
|
Ensembl Gene |
ENSMUSG00000037709 |
Gene Name |
family with sequence similarity 13, member A |
Synonyms |
D430015B01Rik |
MMRRC Submission |
039651-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58917169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 569
(D569V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
AlphaFold |
Q8BGI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089860
AA Change: D597V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087304 Gene: ENSMUSG00000037709 AA Change: D597V
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
19 |
128 |
6e-27 |
BLAST |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
coiled coil region
|
620 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173193
AA Change: D569V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134135 Gene: ENSMUSG00000037709 AA Change: D569V
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
21 |
128 |
6e-27 |
BLAST |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
coiled coil region
|
592 |
617 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3387 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,680,948 (GRCm39) |
A213E |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
Pecam1 |
T |
C |
11: 106,571,905 (GRCm39) |
D554G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
Pop1 |
C |
A |
15: 34,530,356 (GRCm39) |
A918D |
possibly damaging |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
Slc17a6 |
G |
A |
7: 51,296,025 (GRCm39) |
|
probably benign |
Het |
Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
Zbtb18 |
T |
C |
1: 177,274,736 (GRCm39) |
L23P |
probably damaging |
Het |
Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly damaging |
Het |
|
Other mutations in Fam13a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00265:Fam13a
|
APN |
6 |
58,923,111 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00467:Fam13a
|
APN |
6 |
58,917,098 (GRCm39) |
splice site |
probably benign |
|
IGL01288:Fam13a
|
APN |
6 |
58,933,712 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Fam13a
|
APN |
6 |
58,933,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01532:Fam13a
|
APN |
6 |
58,917,280 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02197:Fam13a
|
APN |
6 |
58,912,586 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02206:Fam13a
|
APN |
6 |
58,964,204 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03189:Fam13a
|
APN |
6 |
58,933,843 (GRCm39) |
missense |
probably damaging |
0.99 |
BB009:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
BB019:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
R0361:Fam13a
|
UTSW |
6 |
58,964,159 (GRCm39) |
missense |
probably benign |
|
R0512:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R0801:Fam13a
|
UTSW |
6 |
58,960,997 (GRCm39) |
missense |
probably benign |
0.01 |
R1222:Fam13a
|
UTSW |
6 |
58,912,707 (GRCm39) |
splice site |
probably benign |
|
R1378:Fam13a
|
UTSW |
6 |
58,933,736 (GRCm39) |
missense |
probably benign |
0.04 |
R1535:Fam13a
|
UTSW |
6 |
58,916,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1663:Fam13a
|
UTSW |
6 |
58,931,357 (GRCm39) |
nonsense |
probably null |
|
R1809:Fam13a
|
UTSW |
6 |
58,942,045 (GRCm39) |
critical splice donor site |
probably null |
|
R1905:Fam13a
|
UTSW |
6 |
58,930,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R2568:Fam13a
|
UTSW |
6 |
58,912,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Fam13a
|
UTSW |
6 |
58,964,171 (GRCm39) |
missense |
probably benign |
0.11 |
R4654:Fam13a
|
UTSW |
6 |
58,964,152 (GRCm39) |
missense |
probably benign |
|
R5244:Fam13a
|
UTSW |
6 |
58,930,459 (GRCm39) |
nonsense |
probably null |
|
R5488:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
R5489:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
R5712:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Fam13a
|
UTSW |
6 |
58,916,292 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Fam13a
|
UTSW |
6 |
58,942,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R6074:Fam13a
|
UTSW |
6 |
58,966,723 (GRCm39) |
splice site |
probably null |
|
R6275:Fam13a
|
UTSW |
6 |
58,931,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6306:Fam13a
|
UTSW |
6 |
58,917,239 (GRCm39) |
missense |
probably benign |
0.02 |
R6338:Fam13a
|
UTSW |
6 |
58,930,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Fam13a
|
UTSW |
6 |
58,964,174 (GRCm39) |
missense |
probably benign |
0.31 |
R7508:Fam13a
|
UTSW |
6 |
58,964,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Fam13a
|
UTSW |
6 |
58,932,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R7688:Fam13a
|
UTSW |
6 |
58,912,692 (GRCm39) |
missense |
probably benign |
0.05 |
R7728:Fam13a
|
UTSW |
6 |
58,931,284 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7932:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
R8080:Fam13a
|
UTSW |
6 |
58,933,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R9494:Fam13a
|
UTSW |
6 |
58,930,508 (GRCm39) |
missense |
probably benign |
0.00 |
R9671:Fam13a
|
UTSW |
6 |
58,951,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGACAGCACAACAGCATCATTCAG -3'
(R):5'- GTTGCCTCATGTCTCCAGGAACAAG -3'
Sequencing Primer
(F):5'- tctctcctctcttccttccttc -3'
(R):5'- TCTCCAGGAACAAGAGGAGGG -3'
|
Posted On |
2014-04-24 |