Incidental Mutation 'R4190:Ankrd13b'
ID |
319929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd13b
|
Ensembl Gene |
ENSMUSG00000037907 |
Gene Name |
ankyrin repeat domain 13b |
Synonyms |
B930093C12Rik |
MMRRC Submission |
041021-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
R4190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77361311-77380504 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77367201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 21
(A21V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037593]
[ENSMUST00000092892]
[ENSMUST00000145934]
|
AlphaFold |
Q5F259 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037593
AA Change: A236V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000073584 Gene: ENSMUSG00000037907 AA Change: A236V
Domain | Start | End | E-Value | Type |
ANK
|
13 |
43 |
3.16e2 |
SMART |
ANK
|
47 |
76 |
2.85e-5 |
SMART |
ANK
|
80 |
109 |
1.17e2 |
SMART |
Pfam:GPCR_chapero_1
|
163 |
491 |
5.5e-111 |
PFAM |
UIM
|
503 |
522 |
1.81e-1 |
SMART |
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
UIM
|
585 |
604 |
3.15e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092892
AA Change: A236V
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090568 Gene: ENSMUSG00000037907 AA Change: A236V
Domain | Start | End | E-Value | Type |
ANK
|
13 |
43 |
3.16e2 |
SMART |
ANK
|
47 |
76 |
2.85e-5 |
SMART |
ANK
|
80 |
109 |
1.17e2 |
SMART |
Pfam:GPCR_chapero_1
|
163 |
490 |
3.2e-110 |
PFAM |
UIM
|
503 |
522 |
1.81e-1 |
SMART |
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127291
|
SMART Domains |
Protein: ENSMUSP00000118247 Gene: ENSMUSG00000037907
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
1 |
120 |
9.7e-31 |
PFAM |
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
low complexity region
|
184 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143872
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145934
AA Change: A21V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119633 Gene: ENSMUSG00000037907 AA Change: A21V
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
2 |
276 |
9.7e-90 |
PFAM |
UIM
|
288 |
307 |
1.81e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
probably benign |
Het |
|
Other mutations in Ankrd13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Ankrd13b
|
APN |
11 |
77,363,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01396:Ankrd13b
|
APN |
11 |
77,363,198 (GRCm39) |
splice site |
probably null |
|
IGL02731:Ankrd13b
|
APN |
11 |
77,367,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R0310:Ankrd13b
|
UTSW |
11 |
77,363,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0496:Ankrd13b
|
UTSW |
11 |
77,363,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Ankrd13b
|
UTSW |
11 |
77,364,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0831:Ankrd13b
|
UTSW |
11 |
77,363,585 (GRCm39) |
missense |
probably damaging |
0.99 |
R1156:Ankrd13b
|
UTSW |
11 |
77,363,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R1237:Ankrd13b
|
UTSW |
11 |
77,365,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Ankrd13b
|
UTSW |
11 |
77,367,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Ankrd13b
|
UTSW |
11 |
77,368,331 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3112:Ankrd13b
|
UTSW |
11 |
77,368,331 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4471:Ankrd13b
|
UTSW |
11 |
77,367,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Ankrd13b
|
UTSW |
11 |
77,362,494 (GRCm39) |
missense |
probably benign |
|
R5253:Ankrd13b
|
UTSW |
11 |
77,364,061 (GRCm39) |
intron |
probably benign |
|
R5677:Ankrd13b
|
UTSW |
11 |
77,368,370 (GRCm39) |
missense |
probably damaging |
0.99 |
R7073:Ankrd13b
|
UTSW |
11 |
77,363,335 (GRCm39) |
missense |
probably benign |
0.39 |
R7388:Ankrd13b
|
UTSW |
11 |
77,363,583 (GRCm39) |
missense |
probably benign |
0.02 |
R7417:Ankrd13b
|
UTSW |
11 |
77,367,020 (GRCm39) |
missense |
probably damaging |
0.97 |
R7592:Ankrd13b
|
UTSW |
11 |
77,367,327 (GRCm39) |
missense |
probably benign |
0.45 |
R7596:Ankrd13b
|
UTSW |
11 |
77,363,140 (GRCm39) |
missense |
probably benign |
0.18 |
R7643:Ankrd13b
|
UTSW |
11 |
77,363,911 (GRCm39) |
missense |
probably benign |
0.01 |
R8434:Ankrd13b
|
UTSW |
11 |
77,368,552 (GRCm39) |
missense |
probably benign |
0.01 |
R8959:Ankrd13b
|
UTSW |
11 |
77,367,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R9668:Ankrd13b
|
UTSW |
11 |
77,368,594 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATTCTGCAAACGGCCTTC -3'
(R):5'- TCAGTGAGGCAGTAAGTCTGG -3'
Sequencing Primer
(F):5'- ATCAGGAGTGTGCGCAC -3'
(R):5'- CAGTAAGTCTGGCAGGGTG -3'
|
Posted On |
2015-06-10 |