Incidental Mutation 'R7460:Abi2'
| ID |
578363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi2
|
| Ensembl Gene |
ENSMUSG00000026782 |
| Gene Name |
abl interactor 2 |
| Synonyms |
8430425M24Rik |
| MMRRC Submission |
045534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60473466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 61
(V61D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000188618]
[ENSMUST00000189082]
[ENSMUST00000189980]
[ENSMUST00000190158]
|
| AlphaFold |
P62484 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052332
AA Change: V61D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
168 |
1.1e-37 |
PFAM |
|
low complexity region
|
236 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
370 |
N/A |
INTRINSIC |
|
SH3
|
387 |
442 |
5.55e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185788
|
| SMART Domains |
Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
1 |
67 |
4.4e-25 |
PFAM |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
284 |
N/A |
INTRINSIC |
|
SH3
|
301 |
356 |
3.4e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186097
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
319 |
N/A |
INTRINSIC |
|
SH3
|
336 |
391 |
3.4e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187400
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187709
AA Change: V61D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
165 |
1.8e-33 |
PFAM |
|
low complexity region
|
166 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
399 |
N/A |
INTRINSIC |
|
SH3
|
416 |
471 |
3.4e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188594
AA Change: V61D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
165 |
1.7e-33 |
PFAM |
|
low complexity region
|
166 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
382 |
N/A |
INTRINSIC |
|
SH3
|
399 |
454 |
3.4e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188618
AA Change: V61D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
5.1e-37 |
PFAM |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
437 |
N/A |
INTRINSIC |
|
SH3
|
454 |
487 |
2.29e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189082
|
| SMART Domains |
Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
38 |
115 |
5.8e-34 |
PFAM |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189980
AA Change: V61D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
5e-37 |
PFAM |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
404 |
N/A |
INTRINSIC |
|
SH3
|
421 |
476 |
5.55e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190158
|
| SMART Domains |
Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
PDB:4N78|F
|
88 |
196 |
5e-62 |
PDB |
|
low complexity region
|
226 |
261 |
N/A |
INTRINSIC |
|
SH3
|
278 |
333 |
3.4e-26 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
A |
4: 156,258,881 (GRCm39) |
V915L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,040,212 (GRCm39) |
V476A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,837,861 (GRCm39) |
L720P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,002,660 (GRCm39) |
R343S |
probably benign |
Het |
| Atxn3 |
T |
A |
12: 101,892,776 (GRCm39) |
T313S |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,932,457 (GRCm39) |
E76G |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,762 (GRCm39) |
F610I |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,923 (GRCm39) |
V58D |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,247 (GRCm39) |
D2011G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,275 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,281,440 (GRCm39) |
|
probably null |
Het |
| Disp2 |
A |
G |
2: 118,620,261 (GRCm39) |
H331R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,679 (GRCm39) |
T1279A |
probably benign |
Het |
| Dync1i2 |
T |
C |
2: 71,081,230 (GRCm39) |
I473T |
probably damaging |
Het |
| Fam114a1 |
T |
G |
5: 65,196,050 (GRCm39) |
V520G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,169,789 (GRCm39) |
D2990V |
probably damaging |
Het |
| Fbh1 |
C |
T |
2: 11,761,496 (GRCm39) |
G597D |
probably benign |
Het |
| Fdxr |
A |
C |
11: 115,167,680 (GRCm39) |
S12A |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,914,105 (GRCm39) |
R9W |
possibly damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,656 (GRCm39) |
D103V |
|
Het |
| Hepacam2 |
G |
A |
6: 3,487,199 (GRCm39) |
P53S |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,847 (GRCm39) |
N625D |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,052,815 (GRCm39) |
T21A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,074,013 (GRCm39) |
C930R |
|
Het |
| Lrp1b |
T |
C |
2: 40,488,478 (GRCm39) |
T4536A |
|
Het |
| Lrrc27 |
T |
A |
7: 138,803,574 (GRCm39) |
V166E |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,443 (GRCm39) |
V90I |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,219,837 (GRCm39) |
G339D |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,734,109 (GRCm39) |
M580K |
unknown |
Het |
| Mrc1 |
T |
C |
2: 14,253,680 (GRCm39) |
S234P |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,811 (GRCm39) |
V75I |
not run |
Het |
| Mrtfb |
G |
T |
16: 13,218,840 (GRCm39) |
Q495H |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,807,913 (GRCm39) |
D1845G |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,672 (GRCm39) |
I231F |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,028 (GRCm39) |
M223K |
probably benign |
Het |
| Or7a40 |
C |
A |
16: 16,491,030 (GRCm39) |
A272S |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,649 (GRCm39) |
S160P |
possibly damaging |
Het |
| Pdhx |
G |
A |
2: 102,877,124 (GRCm39) |
T95M |
probably damaging |
Het |
| Pigb |
C |
T |
9: 72,945,957 (GRCm39) |
V72I |
probably damaging |
Het |
| Prr7 |
C |
A |
13: 55,620,166 (GRCm39) |
P110Q |
unknown |
Het |
| Psg22 |
A |
G |
7: 18,458,329 (GRCm39) |
D340G |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,212,301 (GRCm39) |
S908P |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,994,299 (GRCm39) |
Y1348C |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,376,963 (GRCm39) |
I506T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,720,596 (GRCm39) |
Y2684F |
probably benign |
Het |
| Sdr16c6 |
A |
G |
4: 4,076,575 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,993,545 (GRCm39) |
T743A |
possibly damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,434,014 (GRCm39) |
I275V |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,134,674 (GRCm39) |
I467T |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,226,363 (GRCm39) |
D1016G |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,554,933 (GRCm39) |
V317A |
|
Het |
| Tle3 |
A |
G |
9: 61,320,366 (GRCm39) |
H598R |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,694,949 (GRCm39) |
L341P |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trappc14 |
G |
A |
5: 138,260,991 (GRCm39) |
T218M |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,249,168 (GRCm39) |
D866V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,581,617 (GRCm39) |
I23092T |
probably damaging |
Het |
| U2surp |
C |
A |
9: 95,344,877 (GRCm39) |
V944L |
unknown |
Het |
| Urgcp |
T |
C |
11: 5,666,622 (GRCm39) |
H615R |
possibly damaging |
Het |
| Vps45 |
T |
A |
3: 95,955,699 (GRCm39) |
Y97F |
probably benign |
Het |
| Zc3h12c |
T |
C |
9: 52,055,402 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,808,677 (GRCm39) |
H623L |
probably damaging |
Het |
|
| Other mutations in Abi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Abi2
|
APN |
1 |
60,486,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Abi2
|
APN |
1 |
60,476,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Abi2
|
APN |
1 |
60,473,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02074:Abi2
|
APN |
1 |
60,486,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Abi2
|
APN |
1 |
60,487,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02957:Abi2
|
APN |
1 |
60,509,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Abi2
|
UTSW |
1 |
60,476,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0026:Abi2
|
UTSW |
1 |
60,492,882 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0062:Abi2
|
UTSW |
1 |
60,492,884 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0062:Abi2
|
UTSW |
1 |
60,492,884 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3946:Abi2
|
UTSW |
1 |
60,492,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Abi2
|
UTSW |
1 |
60,448,963 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5110:Abi2
|
UTSW |
1 |
60,489,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5557:Abi2
|
UTSW |
1 |
60,478,071 (GRCm39) |
unclassified |
probably benign |
|
|
R6037:Abi2
|
UTSW |
1 |
60,503,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Abi2
|
UTSW |
1 |
60,503,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Abi2
|
UTSW |
1 |
60,492,810 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6481:Abi2
|
UTSW |
1 |
60,478,098 (GRCm39) |
splice site |
probably null |
|
|
R7393:Abi2
|
UTSW |
1 |
60,473,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7573:Abi2
|
UTSW |
1 |
60,509,867 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7744:Abi2
|
UTSW |
1 |
60,476,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8843:Abi2
|
UTSW |
1 |
60,492,888 (GRCm39) |
missense |
probably null |
|
|
R8988:Abi2
|
UTSW |
1 |
60,489,251 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9464:Abi2
|
UTSW |
1 |
60,478,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9528:Abi2
|
UTSW |
1 |
60,473,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9569:Abi2
|
UTSW |
1 |
60,503,763 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9576:Abi2
|
UTSW |
1 |
60,449,008 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Abi2
|
UTSW |
1 |
60,476,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGAAAATATCAGTGAGCTCATT -3'
(R):5'- CCTGCACAACAAAGGCAAGT -3'
Sequencing Primer
(F):5'- GCATTGTGGTTTAAATGACT -3'
(R):5'- CAAGTCAACAAGCTGTGTGTTGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation