Incidental Mutation 'R7661:Abi3bp'
| ID |
628306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi3bp
|
| Ensembl Gene |
ENSMUSG00000035258 |
| Gene Name |
ABI family member 3 binding protein |
| Synonyms |
D930038M13Rik, TARSH, 5033411B22Rik, eratin |
| MMRRC Submission |
045736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
| Type of Mutation |
splice site (15 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 56453263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048471]
[ENSMUST00000096012]
[ENSMUST00000096013]
[ENSMUST00000171000]
[ENSMUST00000231781]
[ENSMUST00000231832]
[ENSMUST00000231870]
|
| AlphaFold |
A0A338P6S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048471
|
| SMART Domains |
Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
FN3
|
941 |
1024 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096012
|
| SMART Domains |
Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
664 |
N/A |
INTRINSIC |
|
FN3
|
841 |
924 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096013
|
| SMART Domains |
Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
|
FN3
|
877 |
960 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171000
|
| SMART Domains |
Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
FN3
|
671 |
754 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231781
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
A |
T |
12: 107,455,215 (GRCm39) |
K100N |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,558,218 (GRCm39) |
D210G |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Ascc1 |
A |
C |
10: 59,885,629 (GRCm39) |
N227H |
probably damaging |
Het |
| Atp5f1a |
G |
T |
18: 77,861,802 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,558 (GRCm39) |
T84A |
possibly damaging |
Het |
| Blmh |
T |
A |
11: 76,877,341 (GRCm39) |
V419D |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,769,177 (GRCm39) |
P1918S |
probably benign |
Het |
| Calr4 |
T |
C |
4: 109,110,951 (GRCm39) |
V339A |
probably benign |
Het |
| Capza3 |
C |
A |
6: 139,987,498 (GRCm39) |
D32E |
probably benign |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Cldn20 |
T |
A |
17: 3,583,133 (GRCm39) |
M102K |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,734,841 (GRCm39) |
Q479R |
probably benign |
Het |
| Dpp10 |
A |
T |
1: 123,312,681 (GRCm39) |
I432N |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,295,434 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,617,503 (GRCm39) |
D741E |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,111,843 (GRCm39) |
|
probably null |
Het |
| Fam47e |
C |
T |
5: 92,735,384 (GRCm39) |
L206F |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,221,772 (GRCm39) |
R714H |
unknown |
Het |
| Hace1 |
T |
G |
10: 45,481,649 (GRCm39) |
V124G |
probably damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,428 (GRCm39) |
Y396F |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,497,826 (GRCm39) |
I13M |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,865,122 (GRCm39) |
F517L |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,829,762 (GRCm39) |
T618A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,691,229 (GRCm39) |
T952A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,402,328 (GRCm39) |
I208K |
probably damaging |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,059 (GRCm39) |
I1744T |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,431 (GRCm39) |
R279W |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,244,761 (GRCm39) |
T646S |
probably damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,518,724 (GRCm39) |
*117R |
probably null |
Het |
| Nudt18 |
A |
T |
14: 70,817,276 (GRCm39) |
E293D |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,426 (GRCm39) |
S75P |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,826 (GRCm39) |
V205E |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,558 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 124,442,696 (GRCm38) |
F17L |
|
Het |
| Ptprk |
T |
C |
10: 28,342,036 (GRCm39) |
I481T |
probably benign |
Het |
| Pygo2 |
T |
C |
3: 89,338,038 (GRCm39) |
|
probably null |
Het |
| Raet1d |
T |
C |
10: 22,248,156 (GRCm39) |
S225P |
possibly damaging |
Het |
| Rnf24 |
T |
C |
2: 131,164,135 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,687 (GRCm39) |
S687G |
probably damaging |
Het |
| Rsph9 |
A |
G |
17: 46,446,013 (GRCm39) |
S186P |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,605,155 (GRCm39) |
M1078I |
probably benign |
Het |
| Scd4 |
C |
A |
19: 44,327,510 (GRCm39) |
D195E |
probably benign |
Het |
| Spopfm3 |
C |
T |
3: 94,105,709 (GRCm39) |
T9I |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,904,940 (GRCm39) |
C348R |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,151,827 (GRCm39) |
F1009S |
probably benign |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,149 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn1r257 |
A |
G |
7: 22,391,229 (GRCm39) |
S172P |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,582 (GRCm39) |
N72K |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,135 (GRCm39) |
C322* |
probably null |
Het |
| Zfp839 |
C |
T |
12: 110,835,226 (GRCm39) |
T827I |
probably benign |
Het |
|
| Other mutations in Abi3bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Abi3bp
|
APN |
16 |
56,423,168 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL01580:Abi3bp
|
APN |
16 |
56,495,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Abi3bp
|
APN |
16 |
56,498,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Abi3bp
|
APN |
16 |
56,353,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01866:Abi3bp
|
APN |
16 |
56,492,336 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02022:Abi3bp
|
APN |
16 |
56,412,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Abi3bp
|
APN |
16 |
56,462,930 (GRCm39) |
splice site |
probably benign |
|
|
IGL02122:Abi3bp
|
APN |
16 |
56,507,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02155:Abi3bp
|
APN |
16 |
56,408,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02351:Abi3bp
|
APN |
16 |
56,474,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02358:Abi3bp
|
APN |
16 |
56,474,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02418:Abi3bp
|
APN |
16 |
56,424,479 (GRCm39) |
splice site |
probably benign |
|
|
IGL02559:Abi3bp
|
APN |
16 |
56,507,433 (GRCm39) |
nonsense |
probably null |
|
|
IGL02617:Abi3bp
|
APN |
16 |
56,394,807 (GRCm39) |
nonsense |
probably null |
|
|
IGL02810:Abi3bp
|
APN |
16 |
56,498,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Abi3bp
|
APN |
16 |
56,488,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03174:Abi3bp
|
APN |
16 |
56,435,110 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0389:Abi3bp
|
UTSW |
16 |
56,491,670 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0485:Abi3bp
|
UTSW |
16 |
56,424,375 (GRCm39) |
splice site |
probably null |
|
|
R0557:Abi3bp
|
UTSW |
16 |
56,488,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0616:Abi3bp
|
UTSW |
16 |
56,474,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0685:Abi3bp
|
UTSW |
16 |
56,353,316 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0783:Abi3bp
|
UTSW |
16 |
56,415,601 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0828:Abi3bp
|
UTSW |
16 |
56,498,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1078:Abi3bp
|
UTSW |
16 |
56,474,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1101:Abi3bp
|
UTSW |
16 |
56,426,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Abi3bp
|
UTSW |
16 |
56,506,792 (GRCm39) |
splice site |
probably benign |
|
|
R1145:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1145:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1317:Abi3bp
|
UTSW |
16 |
56,488,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1384:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Abi3bp
|
UTSW |
16 |
56,382,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Abi3bp
|
UTSW |
16 |
56,488,642 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1761:Abi3bp
|
UTSW |
16 |
56,488,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1830:Abi3bp
|
UTSW |
16 |
56,408,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Abi3bp
|
UTSW |
16 |
56,491,720 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2018:Abi3bp
|
UTSW |
16 |
56,498,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Abi3bp
|
UTSW |
16 |
56,498,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Abi3bp
|
UTSW |
16 |
56,480,581 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2118:Abi3bp
|
UTSW |
16 |
56,298,227 (GRCm39) |
unclassified |
probably benign |
|
|
R2202:Abi3bp
|
UTSW |
16 |
56,433,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2202:Abi3bp
|
UTSW |
16 |
56,471,088 (GRCm39) |
nonsense |
probably null |
|
|
R2203:Abi3bp
|
UTSW |
16 |
56,433,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3030:Abi3bp
|
UTSW |
16 |
56,477,682 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3952:Abi3bp
|
UTSW |
16 |
56,424,401 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4176:Abi3bp
|
UTSW |
16 |
56,472,563 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4296:Abi3bp
|
UTSW |
16 |
56,488,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4301:Abi3bp
|
UTSW |
16 |
56,377,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4354:Abi3bp
|
UTSW |
16 |
56,353,314 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4417:Abi3bp
|
UTSW |
16 |
56,474,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Abi3bp
|
UTSW |
16 |
56,471,088 (GRCm39) |
nonsense |
probably null |
|
|
R4808:Abi3bp
|
UTSW |
16 |
56,414,879 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4814:Abi3bp
|
UTSW |
16 |
56,471,116 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5016:Abi3bp
|
UTSW |
16 |
56,491,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5290:Abi3bp
|
UTSW |
16 |
56,462,838 (GRCm39) |
splice site |
probably null |
|
|
R5891:Abi3bp
|
UTSW |
16 |
56,426,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Abi3bp
|
UTSW |
16 |
56,425,032 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6146:Abi3bp
|
UTSW |
16 |
56,491,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6267:Abi3bp
|
UTSW |
16 |
56,414,860 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6905:Abi3bp
|
UTSW |
16 |
56,394,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Abi3bp
|
UTSW |
16 |
56,477,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6917:Abi3bp
|
UTSW |
16 |
56,437,684 (GRCm39) |
splice site |
probably null |
|
|
R7071:Abi3bp
|
UTSW |
16 |
56,449,503 (GRCm39) |
nonsense |
probably null |
|
|
R7194:Abi3bp
|
UTSW |
16 |
56,382,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7476:Abi3bp
|
UTSW |
16 |
56,435,109 (GRCm39) |
nonsense |
probably null |
|
|
R7554:Abi3bp
|
UTSW |
16 |
56,438,575 (GRCm39) |
splice site |
probably null |
|
|
R7571:Abi3bp
|
UTSW |
16 |
56,451,345 (GRCm39) |
splice site |
probably null |
|
|
R7662:Abi3bp
|
UTSW |
16 |
56,437,686 (GRCm39) |
splice site |
probably null |
|
|
R7910:Abi3bp
|
UTSW |
16 |
56,498,105 (GRCm39) |
nonsense |
probably null |
|
|
R8121:Abi3bp
|
UTSW |
16 |
56,452,241 (GRCm39) |
missense |
unknown |
|
|
R8781:Abi3bp
|
UTSW |
16 |
56,426,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8790:Abi3bp
|
UTSW |
16 |
56,495,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Abi3bp
|
UTSW |
16 |
56,507,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Abi3bp
|
UTSW |
16 |
56,456,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Abi3bp
|
UTSW |
16 |
56,417,173 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9282:Abi3bp
|
UTSW |
16 |
56,440,867 (GRCm39) |
missense |
unknown |
|
|
R9363:Abi3bp
|
UTSW |
16 |
56,438,575 (GRCm39) |
splice site |
probably null |
|
|
R9464:Abi3bp
|
UTSW |
16 |
56,409,046 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9506:Abi3bp
|
UTSW |
16 |
56,437,773 (GRCm39) |
missense |
unknown |
|
|
RF008:Abi3bp
|
UTSW |
16 |
56,447,952 (GRCm39) |
intron |
probably benign |
|
|
RF016:Abi3bp
|
UTSW |
16 |
56,447,950 (GRCm39) |
frame shift |
probably null |
|
|
RF052:Abi3bp
|
UTSW |
16 |
56,447,948 (GRCm39) |
intron |
probably benign |
|
|
RF061:Abi3bp
|
UTSW |
16 |
56,447,950 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTACCAAGGCGCAATGTG -3'
(R):5'- GTCCTGAAGTTAGTTCATGCATGG -3'
Sequencing Primer
(F):5'- GGCGCAATGTGACCAAATC -3'
(R):5'- GCATGGTGCTCTTGAATTCAAC -3'
|
| Posted On |
2020-02-28 |
Incidental Mutation