Incidental Mutation 'R6928:Asb3'
| ID |
539853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb3
|
| Ensembl Gene |
ENSMUSG00000020305 |
| Gene Name |
ankyrin repeat and SOCS box-containing 3 |
| Synonyms |
2400011J03Rik |
| MMRRC Submission |
045045-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R6928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
30904398-31052704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30948326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 40
(M40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020551]
[ENSMUST00000117883]
[ENSMUST00000137306]
[ENSMUST00000203878]
|
| AlphaFold |
Q9WV72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020551
AA Change: M1L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020551
Gene: ENSMUSG00000020305
AA Change: M1L
| 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 damaging
Transcript: ENSMUST00000117883
AA Change: M1L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113072
Gene: ENSMUSG00000020305
AA Change: M1L
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137306
AA Change: M1L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114692
Gene: ENSMUSG00000020305
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
9 |
38 |
5.29e0 |
SMART |
|
ANK
|
42 |
71 |
4.3e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203878
AA Change: M40L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305
AA Change: M40L
| 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 |
|
| Meta Mutation Damage Score |
0.1826 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.5%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,456,257 (GRCm39) |
D215G |
possibly damaging |
Het |
| Aspg |
G |
A |
12: 112,093,123 (GRCm39) |
V547M |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,407,944 (GRCm39) |
L2277* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,484,828 (GRCm39) |
S1295P |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,193 (GRCm39) |
S199P |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,387,642 (GRCm39) |
E514G |
possibly damaging |
Het |
| Cenpk |
G |
T |
13: 104,365,500 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
C |
A |
9: 105,817,118 (GRCm39) |
V398L |
unknown |
Het |
| Colec10 |
A |
T |
15: 54,326,002 (GRCm39) |
K277N |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,805,164 (GRCm39) |
Y1992N |
possibly damaging |
Het |
| Drd3 |
G |
T |
16: 43,641,683 (GRCm39) |
R333L |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,207,342 (GRCm39) |
R269C |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,212,252 (GRCm39) |
C188Y |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,267,112 (GRCm39) |
D1041G |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,337,911 (GRCm39) |
F68S |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,634 (GRCm39) |
V212A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,497,734 (GRCm39) |
K169E |
probably benign |
Het |
| Hexd |
T |
A |
11: 121,102,880 (GRCm39) |
F33I |
possibly damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,718,269 (GRCm39) |
I32V |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,673,372 (GRCm39) |
V378A |
probably benign |
Het |
| Kcnmb2 |
T |
C |
3: 32,253,190 (GRCm39) |
S177P |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,050,800 (GRCm39) |
S651T |
possibly damaging |
Het |
| Map3k2 |
T |
C |
18: 32,340,593 (GRCm39) |
|
probably null |
Het |
| Mib1 |
T |
G |
18: 10,802,282 (GRCm39) |
S870A |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,708,871 (GRCm39) |
N226I |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,176,186 (GRCm39) |
N547K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,781,042 (GRCm39) |
V16A |
probably benign |
Het |
| Nme1 |
T |
C |
11: 93,850,229 (GRCm39) |
Y151C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,653 (GRCm39) |
F879L |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,796 (GRCm39) |
Y197* |
probably null |
Het |
| Or5ac25 |
C |
A |
16: 59,181,826 (GRCm39) |
G252C |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,977,202 (GRCm39) |
N284S |
probably damaging |
Het |
| Or8d23 |
T |
C |
9: 38,841,862 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,928 (GRCm39) |
M268V |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,474 (GRCm39) |
E201G |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,152,004 (GRCm39) |
V301A |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,157,003 (GRCm39) |
S411T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,985,973 (GRCm39) |
W653R |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,791 (GRCm39) |
E199G |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,763,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,160,382 (GRCm39) |
I524T |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,586 (GRCm39) |
|
probably null |
Het |
| Spg11 |
C |
T |
2: 121,900,385 (GRCm39) |
V1556I |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,855 (GRCm39) |
C288S |
probably benign |
Het |
| Srebf2 |
C |
T |
15: 82,087,924 (GRCm39) |
R215* |
probably null |
Het |
| Tdpoz8 |
G |
A |
3: 92,981,267 (GRCm39) |
C95Y |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,183,179 (GRCm39) |
N147S |
possibly damaging |
Het |
| Tpr |
T |
C |
1: 150,284,536 (GRCm39) |
S408P |
possibly damaging |
Het |
| Trav13d-4 |
C |
T |
14: 53,310,618 (GRCm39) |
T53I |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,099,307 (GRCm39) |
R168W |
possibly damaging |
Het |
| Trim11 |
A |
G |
11: 58,879,669 (GRCm39) |
K273R |
probably damaging |
Het |
| Tsacc |
T |
A |
3: 88,190,247 (GRCm39) |
M68L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,869 (GRCm39) |
M22110L |
probably benign |
Het |
| Zfp160 |
G |
T |
17: 21,261,724 (GRCm39) |
G104V |
probably benign |
Het |
| Zfp582 |
T |
C |
7: 6,357,266 (GRCm39) |
Y360H |
probably damaging |
Het |
| Zranb1 |
G |
A |
7: 132,568,323 (GRCm39) |
R301H |
possibly damaging |
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 |
|
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 |
|
R9708:Asb3
|
UTSW |
11 |
31,051,075 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCCTGCTGGAAAGATCTGACAG -3'
(R):5'- CTCTACAGCATTGTGATAAGCTGC -3'
Sequencing Primer
(F):5'- TCTGACAGACATTTTCAGAGGG -3'
(R):5'- AAGCTGCTTCATGAATCGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation