Incidental Mutation 'R9708:Asb3'
| ID |
729909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb3
|
| Ensembl Gene |
ENSMUSG00000020305 |
| Gene Name |
ankyrin repeat and SOCS box-containing 3 |
| Synonyms |
2400011J03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
R9708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31051075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 471
(I471F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
| AlphaFold |
Q9WV72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020551
AA Change: I471F
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: I471F
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
1.23e0 |
SMART |
|
ANK
|
78 |
107 |
7.3e-3 |
SMART |
|
ANK
|
111 |
140 |
2.66e-5 |
SMART |
|
ANK
|
145 |
174 |
2.73e-2 |
SMART |
|
ANK
|
178 |
207 |
2.81e-4 |
SMART |
|
ANK
|
211 |
240 |
1.88e-5 |
SMART |
|
ANK
|
246 |
276 |
1.6e2 |
SMART |
|
ANK
|
279 |
308 |
1.9e-1 |
SMART |
|
ANK
|
315 |
346 |
1.17e2 |
SMART |
|
SOCS_box
|
460 |
502 |
2.1e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137306
|
| SMART Domains |
Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
4.3e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203878
AA Change: I510F
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: I510F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
ANK
|
48 |
77 |
3.5e-2 |
SMART |
|
ANK
|
81 |
110 |
8e-3 |
SMART |
|
ANK
|
117 |
146 |
4.8e-5 |
SMART |
|
ANK
|
150 |
179 |
1.7e-7 |
SMART |
|
ANK
|
184 |
213 |
1.8e-4 |
SMART |
|
ANK
|
217 |
246 |
1.8e-6 |
SMART |
|
ANK
|
250 |
279 |
1.2e-7 |
SMART |
|
ANK
|
285 |
315 |
1.1e0 |
SMART |
|
ANK
|
318 |
347 |
1.2e-3 |
SMART |
|
ANK
|
354 |
385 |
7.7e-1 |
SMART |
|
SOCS
|
493 |
542 |
2.8e-4 |
SMART |
|
SOCS_box
|
499 |
541 |
1.6e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
Het |
|
| Other mutations in Asb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02879:Asb3
|
APN |
11 |
31,051,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02932:Asb3
|
APN |
11 |
30,979,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
Kickbox
|
UTSW |
11 |
30,948,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
low_blow
|
UTSW |
11 |
30,948,348 (GRCm39) |
nonsense |
probably null |
|
|
Octagon
|
UTSW |
11 |
30,948,321 (GRCm39) |
missense |
probably benign |
0.34 |
|
penalty
|
UTSW |
11 |
31,031,357 (GRCm39) |
splice site |
probably null |
|
|
sixpack
|
UTSW |
11 |
31,035,143 (GRCm39) |
missense |
probably benign |
|
|
R0573:Asb3
|
UTSW |
11 |
31,011,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1395:Asb3
|
UTSW |
11 |
31,051,032 (GRCm39) |
splice site |
probably benign |
|
|
R1545:Asb3
|
UTSW |
11 |
31,006,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2108:Asb3
|
UTSW |
11 |
31,031,355 (GRCm39) |
splice site |
probably null |
|
|
R2364:Asb3
|
UTSW |
11 |
31,051,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4527:Asb3
|
UTSW |
11 |
31,008,933 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5019:Asb3
|
UTSW |
11 |
31,031,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5176:Asb3
|
UTSW |
11 |
31,031,357 (GRCm39) |
splice site |
probably null |
|
|
R5344:Asb3
|
UTSW |
11 |
31,051,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5734:Asb3
|
UTSW |
11 |
30,979,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Asb3
|
UTSW |
11 |
31,005,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Asb3
|
UTSW |
11 |
31,035,143 (GRCm39) |
missense |
probably benign |
|
|
R6747:Asb3
|
UTSW |
11 |
31,031,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6827:Asb3
|
UTSW |
11 |
31,051,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6928:Asb3
|
UTSW |
11 |
30,948,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Asb3
|
UTSW |
11 |
31,051,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Asb3
|
UTSW |
11 |
30,948,321 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7135:Asb3
|
UTSW |
11 |
30,948,501 (GRCm39) |
nonsense |
probably null |
|
|
R7165:Asb3
|
UTSW |
11 |
30,979,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7200:Asb3
|
UTSW |
11 |
30,948,348 (GRCm39) |
nonsense |
probably null |
|
|
R7265:Asb3
|
UTSW |
11 |
30,948,495 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7509:Asb3
|
UTSW |
11 |
30,948,507 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7674:Asb3
|
UTSW |
11 |
31,031,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8029:Asb3
|
UTSW |
11 |
31,051,180 (GRCm39) |
nonsense |
probably null |
|
|
R8034:Asb3
|
UTSW |
11 |
31,031,554 (GRCm39) |
nonsense |
probably null |
|
|
R8061:Asb3
|
UTSW |
11 |
30,948,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Asb3
|
UTSW |
11 |
31,051,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8952:Asb3
|
UTSW |
11 |
31,008,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Asb3
|
UTSW |
11 |
30,978,962 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9381:Asb3
|
UTSW |
11 |
31,051,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Asb3
|
UTSW |
11 |
31,031,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Asb3
|
UTSW |
11 |
31,031,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9747:Asb3
|
UTSW |
11 |
31,008,946 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
RF016:Asb3
|
UTSW |
11 |
31,011,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0024:Asb3
|
UTSW |
11 |
31,008,950 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Asb3
|
UTSW |
11 |
31,008,965 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGGTCTCTCATTGGATCTG -3'
(R):5'- GCCGTCTTTTGTGACTAAACAG -3'
Sequencing Primer
(F):5'- GCAAGCTACACTGATGCTCCTG -3'
(R):5'- CAGAATTAAAGGACCTGTGTCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation