Incidental Mutation 'R3976:Asb4'
| ID |
312635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb4
|
| Ensembl Gene |
ENSMUSG00000042607 |
| Gene Name |
ankyrin repeat and SOCS box-containing 4 |
| Synonyms |
8430401O13Rik |
| MMRRC Submission |
040842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R3976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5383386-5433022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5390771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 55
(M55L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043294]
[ENSMUST00000183358]
|
| AlphaFold |
Q9WV71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043294
AA Change: M55L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040331
Gene: ENSMUSG00000042607
AA Change: M55L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
74 |
103 |
6.26e-2 |
SMART |
|
ANK
|
106 |
135 |
4.46e-7 |
SMART |
|
ANK
|
139 |
168 |
4.86e1 |
SMART |
|
ANK
|
174 |
203 |
2.43e1 |
SMART |
|
ANK
|
207 |
247 |
1.17e2 |
SMART |
|
ANK
|
251 |
280 |
8.86e-2 |
SMART |
|
SOCS_box
|
381 |
420 |
7.48e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183358
AA Change: M55L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000139245
Gene: ENSMUSG00000042607
AA Change: M55L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
74 |
103 |
6.26e-2 |
SMART |
|
ANK
|
106 |
135 |
4.46e-7 |
SMART |
|
ANK
|
139 |
168 |
1.02e3 |
SMART |
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired placentation, embryonic growth arrest, reduced litter size, and pre-eclampsia like features including hypertension and albuminuria in late-stage pregnant females as well as renal defects including glomerular endotheliosis and mesangial expansion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,375,954 (GRCm39) |
S10P |
probably damaging |
Het |
| Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Cyb5r3 |
A |
G |
15: 83,044,330 (GRCm39) |
V180A |
possibly damaging |
Het |
| Dglucy |
A |
T |
12: 100,807,648 (GRCm39) |
T186S |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
| Fam90a1a |
G |
A |
8: 22,451,432 (GRCm39) |
D98N |
probably damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,524,606 (GRCm39) |
L42Q |
probably damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,268,697 (GRCm39) |
V231A |
probably benign |
Het |
| Fermt3 |
G |
A |
19: 6,979,792 (GRCm39) |
A447V |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,950,467 (GRCm39) |
L605P |
unknown |
Het |
| Gcsam |
T |
G |
16: 45,440,192 (GRCm39) |
N78K |
probably damaging |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Gm28042 |
C |
T |
2: 119,867,237 (GRCm39) |
H218Y |
probably benign |
Het |
| Herpud2 |
A |
G |
9: 25,021,734 (GRCm39) |
V304A |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
| Lrp3 |
T |
C |
7: 34,903,530 (GRCm39) |
D251G |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,319,066 (GRCm39) |
R173H |
probably benign |
Het |
| Or2k2 |
A |
G |
4: 58,785,164 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,951 (GRCm39) |
G108D |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,939 (GRCm39) |
S365P |
probably benign |
Het |
| Rhbg |
C |
A |
3: 88,151,843 (GRCm39) |
G383V |
probably damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Runx2 |
T |
C |
17: 44,920,966 (GRCm39) |
T339A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,182 (GRCm39) |
E3455G |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
| Spg7 |
A |
G |
8: 123,806,187 (GRCm39) |
D299G |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 119,878,742 (GRCm39) |
|
noncoding transcript |
Het |
| Srcap |
A |
G |
7: 127,148,411 (GRCm39) |
T1859A |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,906 (GRCm39) |
V374A |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Tubal3 |
C |
T |
13: 3,982,946 (GRCm39) |
S242L |
probably benign |
Het |
| Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
|
| Other mutations in Asb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02086:Asb4
|
APN |
6 |
5,398,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03015:Asb4
|
APN |
6 |
5,398,515 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03280:Asb4
|
APN |
6 |
5,423,416 (GRCm39) |
missense |
probably benign |
|
|
R1146:Asb4
|
UTSW |
6 |
5,423,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Asb4
|
UTSW |
6 |
5,423,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1267:Asb4
|
UTSW |
6 |
5,423,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Asb4
|
UTSW |
6 |
5,398,410 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1595:Asb4
|
UTSW |
6 |
5,390,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Asb4
|
UTSW |
6 |
5,390,798 (GRCm39) |
splice site |
probably null |
|
|
R2118:Asb4
|
UTSW |
6 |
5,390,687 (GRCm39) |
missense |
probably benign |
|
|
R4020:Asb4
|
UTSW |
6 |
5,390,803 (GRCm39) |
splice site |
probably benign |
|
|
R4067:Asb4
|
UTSW |
6 |
5,423,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Asb4
|
UTSW |
6 |
5,423,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4895:Asb4
|
UTSW |
6 |
5,398,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5432:Asb4
|
UTSW |
6 |
5,430,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5444:Asb4
|
UTSW |
6 |
5,431,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6196:Asb4
|
UTSW |
6 |
5,390,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6276:Asb4
|
UTSW |
6 |
5,431,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Asb4
|
UTSW |
6 |
5,423,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Asb4
|
UTSW |
6 |
5,398,304 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7098:Asb4
|
UTSW |
6 |
5,398,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Asb4
|
UTSW |
6 |
5,423,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7547:Asb4
|
UTSW |
6 |
5,398,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Asb4
|
UTSW |
6 |
5,430,968 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7707:Asb4
|
UTSW |
6 |
5,430,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8486:Asb4
|
UTSW |
6 |
5,390,653 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9170:Asb4
|
UTSW |
6 |
5,390,775 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9440:Asb4
|
UTSW |
6 |
5,429,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9684:Asb4
|
UTSW |
6 |
5,398,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCATTGCTCCGCTTCCACAG -3'
(R):5'- ATTCCAGGCGCAAGAATGGC -3'
Sequencing Primer
(F):5'- ACAGGGCTCCGAGGATG -3'
(R):5'- TGTATGGATCTATGAAAATCACCCCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation