Incidental Mutation 'R6785:Abi1'
| ID |
531592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi1
|
| Ensembl Gene |
ENSMUSG00000058835 |
| Gene Name |
abl interactor 1 |
| Synonyms |
Ssh3bp1, E3B1 |
| MMRRC Submission |
044899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
R6785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22830085-22930207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22843479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 316
(V316A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078977]
[ENSMUST00000091394]
[ENSMUST00000093171]
[ENSMUST00000114544]
[ENSMUST00000123948]
[ENSMUST00000126112]
[ENSMUST00000139038]
[ENSMUST00000178908]
[ENSMUST00000149719]
[ENSMUST00000140164]
[ENSMUST00000153931]
|
| AlphaFold |
Q8CBW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078977
AA Change: V322A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: V322A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
3.7e-38 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
364 |
N/A |
INTRINSIC |
|
SH3
|
393 |
448 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091394
AA Change: V321A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: V321A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
4.1e-38 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
392 |
N/A |
INTRINSIC |
|
SH3
|
421 |
476 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093171
AA Change: V321A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: V321A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
3.7e-38 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
363 |
N/A |
INTRINSIC |
|
SH3
|
392 |
447 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114544
|
| SMART Domains |
Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
170 |
4.4e-37 |
PFAM |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
300 |
N/A |
INTRINSIC |
|
SH3
|
329 |
384 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123948
AA Change: V322A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: V322A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
170 |
5.1e-39 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
393 |
N/A |
INTRINSIC |
|
SH3
|
422 |
477 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126112
AA Change: V317A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: V317A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
170 |
8.6e-37 |
PFAM |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
388 |
N/A |
INTRINSIC |
|
SH3
|
417 |
472 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139038
|
| SMART Domains |
Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
3.4e-38 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
334 |
N/A |
INTRINSIC |
|
SH3
|
363 |
418 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178908
AA Change: V322A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: V322A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
3.9e-37 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
393 |
N/A |
INTRINSIC |
|
SH3
|
422 |
477 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149719
AA Change: V316A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: V316A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
170 |
7.8e-37 |
PFAM |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
358 |
N/A |
INTRINSIC |
|
SH3
|
387 |
442 |
2.38e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140164
AA Change: V316A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: V316A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
170 |
8.6e-37 |
PFAM |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
387 |
N/A |
INTRINSIC |
|
SH3
|
416 |
471 |
2.38e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153931
|
| SMART Domains |
Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abi_HHR
|
93 |
171 |
3e-38 |
PFAM |
|
low complexity region
|
176 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
305 |
N/A |
INTRINSIC |
|
SH3
|
334 |
389 |
2.38e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.1028 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,747,908 (GRCm39) |
Y170C |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,402,605 (GRCm39) |
V587A |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,171,212 (GRCm39) |
I422V |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,556,788 (GRCm39) |
L375P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,799 (GRCm39) |
D102G |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,481 (GRCm39) |
|
probably benign |
Het |
| Coa4 |
G |
A |
7: 100,188,460 (GRCm39) |
V58M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,875,167 (GRCm39) |
N647S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,596,113 (GRCm39) |
G1547S |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Fasl |
T |
A |
1: 161,609,404 (GRCm39) |
Y194F |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,230,754 (GRCm39) |
E349G |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,312,531 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,845 (GRCm39) |
C86R |
unknown |
Het |
| H2-M9 |
T |
C |
17: 36,953,125 (GRCm39) |
N61D |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,247 (GRCm39) |
E380K |
possibly damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,126,283 (GRCm39) |
K67N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,709 (GRCm39) |
S170P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,665 (GRCm39) |
P2336Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,572 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
T |
C |
8: 95,822,270 (GRCm39) |
Y298H |
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,819,933 (GRCm39) |
N1610K |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,500 (GRCm39) |
C119* |
probably null |
Het |
| Lcn2 |
C |
T |
2: 32,277,039 (GRCm39) |
|
probably null |
Het |
| Lmf2 |
A |
T |
15: 89,236,236 (GRCm39) |
S588T |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,835 (GRCm39) |
L231P |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,547 (GRCm39) |
R288G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,338,392 (GRCm39) |
V694A |
probably benign |
Het |
| Ndnf |
C |
A |
6: 65,680,047 (GRCm39) |
L109I |
probably benign |
Het |
| Nfkb1 |
C |
A |
3: 135,321,064 (GRCm39) |
E230D |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,014,271 (GRCm39) |
K409R |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,854 (GRCm39) |
Q22R |
probably benign |
Het |
| Or1j10 |
C |
A |
2: 36,266,963 (GRCm39) |
Y58* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,765 (GRCm39) |
M136L |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,851,243 (GRCm39) |
T534N |
probably benign |
Het |
| Plekhf1 |
G |
A |
7: 37,921,488 (GRCm39) |
Q27* |
probably null |
Het |
| Ppp6c |
A |
T |
2: 39,087,593 (GRCm39) |
H204Q |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,536,670 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
A |
G |
7: 44,709,649 (GRCm39) |
F83L |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,210,692 (GRCm39) |
D938A |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,079,620 (GRCm39) |
N1228S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,764,299 (GRCm39) |
T3060K |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,409,824 (GRCm39) |
I557T |
probably benign |
Het |
| Setdb1 |
C |
A |
3: 95,233,712 (GRCm39) |
R1066L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,049,066 (GRCm39) |
M1100V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,121,198 (GRCm39) |
V353A |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,105,427 (GRCm39) |
T475S |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,071,085 (GRCm39) |
M1122K |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,444 (GRCm39) |
K223* |
probably null |
Het |
| Tex2 |
A |
C |
11: 106,424,776 (GRCm39) |
I334R |
probably damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Tfdp1 |
G |
T |
8: 13,427,233 (GRCm39) |
V393F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,644 (GRCm39) |
L26P |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,027 (GRCm39) |
I73T |
probably damaging |
Het |
| Tssk4 |
T |
A |
14: 55,887,932 (GRCm39) |
Y43N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,839 (GRCm39) |
T25389A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,578,288 (GRCm39) |
F24202I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,562 (GRCm39) |
S105P |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,601 (GRCm39) |
C541* |
probably null |
Het |
|
| Other mutations in Abi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Abi1
|
APN |
2 |
22,831,942 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01694:Abi1
|
APN |
2 |
22,850,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Abi1
|
APN |
2 |
22,836,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02189:Abi1
|
APN |
2 |
22,930,076 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL03126:Abi1
|
APN |
2 |
22,843,479 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03213:Abi1
|
APN |
2 |
22,831,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03325:Abi1
|
APN |
2 |
22,861,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Abi1
|
UTSW |
2 |
22,850,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Abi1
|
UTSW |
2 |
22,852,516 (GRCm39) |
splice site |
probably benign |
|
|
R1265:Abi1
|
UTSW |
2 |
22,836,734 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1851:Abi1
|
UTSW |
2 |
22,840,276 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2975:Abi1
|
UTSW |
2 |
22,847,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3416:Abi1
|
UTSW |
2 |
22,930,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Abi1
|
UTSW |
2 |
22,840,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5277:Abi1
|
UTSW |
2 |
22,884,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Abi1
|
UTSW |
2 |
22,929,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Abi1
|
UTSW |
2 |
22,832,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Abi1
|
UTSW |
2 |
22,847,101 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7565:Abi1
|
UTSW |
2 |
22,836,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8052:Abi1
|
UTSW |
2 |
22,843,555 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8252:Abi1
|
UTSW |
2 |
22,861,284 (GRCm39) |
splice site |
probably benign |
|
|
R8891:Abi1
|
UTSW |
2 |
22,861,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9214:Abi1
|
UTSW |
2 |
22,831,989 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Abi1
|
UTSW |
2 |
22,861,166 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATACTTGAGTGAACCCTGG -3'
(R):5'- CTTGGTTGCCTTTGACTAATGC -3'
Sequencing Primer
(F):5'- GTGAACCCTGGAGAATAAATAAGC -3'
(R):5'- GCTTTTCAGCAGCCCCTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation