Incidental Mutation 'R5518:Abcc8'
| ID |
431403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc8
|
| Ensembl Gene |
ENSMUSG00000040136 |
| Gene Name |
ATP-binding cassette, sub-family C member 8 |
| Synonyms |
SUR1, Sur, D930031B21Rik |
| MMRRC Submission |
043077-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.500)
|
| Stock # |
R5518 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45753952-45829441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45769873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 881
(E881K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033123]
|
| AlphaFold |
B2RUS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033123
AA Change: E881K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: E881K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
131 |
148 |
N/A |
INTRINSIC |
|
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
299 |
590 |
1.3e-39 |
PFAM |
|
AAA
|
705 |
920 |
4.46e-14 |
SMART |
|
low complexity region
|
972 |
994 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
1019 |
1301 |
1.3e-49 |
PFAM |
|
AAA
|
1377 |
1570 |
4.33e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210637
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210655
AA Change: E202K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211767
|
| Meta Mutation Damage Score |
0.1484 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 94.2%
- 20x: 86.3%
|
| Validation Efficiency |
100% (75/75) |
| 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 superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Abl1 |
T |
A |
2: 31,680,754 (GRCm39) |
C349S |
probably damaging |
Het |
| Acot11 |
C |
A |
4: 106,607,207 (GRCm39) |
V459L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,753,348 (GRCm39) |
V311D |
probably damaging |
Het |
| Ankrd11 |
C |
G |
8: 123,617,733 (GRCm39) |
E2040Q |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,525,869 (GRCm39) |
I359V |
probably benign |
Het |
| Armc3 |
T |
G |
2: 19,302,739 (GRCm39) |
L684V |
probably benign |
Het |
| Asb10 |
G |
A |
5: 24,744,643 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,042,463 (GRCm39) |
S8P |
possibly damaging |
Het |
| Blk |
G |
T |
14: 63,615,956 (GRCm39) |
S324R |
possibly damaging |
Het |
| C4b |
G |
C |
17: 34,953,416 (GRCm39) |
N1022K |
probably benign |
Het |
| Card6 |
G |
T |
15: 5,134,696 (GRCm39) |
T169K |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,236,844 (GRCm39) |
T268A |
possibly damaging |
Het |
| Cbx3 |
C |
T |
6: 51,458,726 (GRCm39) |
P64S |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,544,567 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,212,534 (GRCm39) |
E899K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,949,387 (GRCm39) |
S749R |
possibly damaging |
Het |
| Cpne3 |
T |
G |
4: 19,553,779 (GRCm39) |
N84T |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,617,025 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,242,818 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,596 (GRCm39) |
C221F |
probably damaging |
Het |
| Exoc3l |
T |
C |
8: 106,019,795 (GRCm39) |
N353D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| G3bp2 |
T |
A |
5: 92,216,347 (GRCm39) |
H63L |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 130,929,428 (GRCm39) |
Y460H |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,865,004 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,154 (GRCm39) |
L23P |
probably damaging |
Het |
| Ins1 |
T |
C |
19: 52,253,177 (GRCm39) |
L39P |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,306,566 (GRCm39) |
V210G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,683,488 (GRCm39) |
T210S |
probably benign |
Het |
| Krtap24-1 |
A |
T |
16: 88,408,596 (GRCm39) |
F177I |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,079 (GRCm39) |
I1963K |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,431,875 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
A |
T |
10: 80,504,475 (GRCm39) |
C229S |
possibly damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,456 (GRCm39) |
Q362K |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,232,105 (GRCm39) |
Y225H |
probably benign |
Het |
| Or4d11 |
T |
C |
19: 12,013,429 (GRCm39) |
R226G |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,415 (GRCm39) |
D693G |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,368,294 (GRCm39) |
D100N |
possibly damaging |
Het |
| Pld3 |
T |
C |
7: 27,231,796 (GRCm39) |
D465G |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,496,172 (GRCm39) |
Y788H |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 162,120,143 (GRCm39) |
D108V |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,354 (GRCm39) |
M475K |
probably benign |
Het |
| Rbak |
A |
G |
5: 143,159,064 (GRCm39) |
L663P |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,719,590 (GRCm39) |
N947D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,702,795 (GRCm39) |
S2898G |
probably benign |
Het |
| Serpina1e |
A |
C |
12: 103,917,087 (GRCm39) |
L194R |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,944,724 (GRCm39) |
S158P |
probably damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,292,342 (GRCm39) |
V269E |
possibly damaging |
Het |
| Snx14 |
G |
T |
9: 88,265,855 (GRCm39) |
P760Q |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,948,508 (GRCm39) |
E759G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,473,588 (GRCm39) |
T4906M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,991,944 (GRCm39) |
F1970I |
possibly damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,768 (GRCm39) |
H362Q |
probably benign |
Het |
| Tmem121 |
T |
C |
12: 113,152,547 (GRCm39) |
V255A |
possibly damaging |
Het |
| Tmem201 |
T |
C |
4: 149,802,534 (GRCm39) |
T614A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,935,916 (GRCm39) |
D340G |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,373,794 (GRCm39) |
T1046S |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,238 (GRCm39) |
D8G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,937 (GRCm39) |
N850S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,231,417 (GRCm39) |
H451R |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,818 (GRCm39) |
C595R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,583 (GRCm39) |
S182P |
probably benign |
Het |
|
| Other mutations in Abcc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Abcc8
|
APN |
7 |
45,754,088 (GRCm39) |
missense |
probably benign |
|
|
IGL01457:Abcc8
|
APN |
7 |
45,784,917 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01645:Abcc8
|
APN |
7 |
45,764,477 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01683:Abcc8
|
APN |
7 |
45,801,091 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01826:Abcc8
|
APN |
7 |
45,774,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01912:Abcc8
|
APN |
7 |
45,769,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Abcc8
|
APN |
7 |
45,769,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02326:Abcc8
|
APN |
7 |
45,772,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02403:Abcc8
|
APN |
7 |
45,755,227 (GRCm39) |
splice site |
probably null |
|
|
IGL02411:Abcc8
|
APN |
7 |
45,756,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Abcc8
|
APN |
7 |
45,765,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL02706:Abcc8
|
APN |
7 |
45,816,345 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0295:Abcc8
|
UTSW |
7 |
45,767,478 (GRCm39) |
missense |
probably benign |
|
|
R0381:Abcc8
|
UTSW |
7 |
45,757,858 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0391:Abcc8
|
UTSW |
7 |
45,771,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0408:Abcc8
|
UTSW |
7 |
45,756,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0496:Abcc8
|
UTSW |
7 |
45,758,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1126:Abcc8
|
UTSW |
7 |
45,759,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1323:Abcc8
|
UTSW |
7 |
45,766,786 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1323:Abcc8
|
UTSW |
7 |
45,766,786 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1352:Abcc8
|
UTSW |
7 |
45,784,892 (GRCm39) |
splice site |
probably benign |
|
|
R1368:Abcc8
|
UTSW |
7 |
45,772,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Abcc8
|
UTSW |
7 |
45,829,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Abcc8
|
UTSW |
7 |
45,803,936 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1689:Abcc8
|
UTSW |
7 |
45,769,827 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1717:Abcc8
|
UTSW |
7 |
45,765,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1804:Abcc8
|
UTSW |
7 |
45,769,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1848:Abcc8
|
UTSW |
7 |
45,816,326 (GRCm39) |
missense |
probably benign |
|
|
R1870:Abcc8
|
UTSW |
7 |
45,773,339 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1938:Abcc8
|
UTSW |
7 |
45,824,795 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1993:Abcc8
|
UTSW |
7 |
45,766,847 (GRCm39) |
splice site |
probably null |
|
|
R1994:Abcc8
|
UTSW |
7 |
45,806,543 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2511:Abcc8
|
UTSW |
7 |
45,800,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Abcc8
|
UTSW |
7 |
45,757,524 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3879:Abcc8
|
UTSW |
7 |
45,754,051 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4444:Abcc8
|
UTSW |
7 |
45,785,618 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4463:Abcc8
|
UTSW |
7 |
45,756,005 (GRCm39) |
splice site |
probably null |
|
|
R4761:Abcc8
|
UTSW |
7 |
45,762,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Abcc8
|
UTSW |
7 |
45,754,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4841:Abcc8
|
UTSW |
7 |
45,800,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Abcc8
|
UTSW |
7 |
45,800,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Abcc8
|
UTSW |
7 |
45,756,683 (GRCm39) |
nonsense |
probably null |
|
|
R4969:Abcc8
|
UTSW |
7 |
45,754,943 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4975:Abcc8
|
UTSW |
7 |
45,800,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5258:Abcc8
|
UTSW |
7 |
45,806,572 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5258:Abcc8
|
UTSW |
7 |
45,757,811 (GRCm39) |
missense |
probably benign |
|
|
R5502:Abcc8
|
UTSW |
7 |
45,758,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Abcc8
|
UTSW |
7 |
45,757,828 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5902:Abcc8
|
UTSW |
7 |
45,764,463 (GRCm39) |
missense |
probably benign |
|
|
R5907:Abcc8
|
UTSW |
7 |
45,773,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6023:Abcc8
|
UTSW |
7 |
45,757,843 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6026:Abcc8
|
UTSW |
7 |
45,816,424 (GRCm39) |
missense |
probably benign |
|
|
R6078:Abcc8
|
UTSW |
7 |
45,755,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6079:Abcc8
|
UTSW |
7 |
45,755,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6103:Abcc8
|
UTSW |
7 |
45,768,445 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6221:Abcc8
|
UTSW |
7 |
45,824,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6511:Abcc8
|
UTSW |
7 |
45,800,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7046:Abcc8
|
UTSW |
7 |
45,772,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Abcc8
|
UTSW |
7 |
45,766,812 (GRCm39) |
missense |
probably benign |
|
|
R7287:Abcc8
|
UTSW |
7 |
45,762,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7292:Abcc8
|
UTSW |
7 |
45,784,950 (GRCm39) |
missense |
probably benign |
|
|
R7299:Abcc8
|
UTSW |
7 |
45,754,922 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7411:Abcc8
|
UTSW |
7 |
45,815,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7693:Abcc8
|
UTSW |
7 |
45,827,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7704:Abcc8
|
UTSW |
7 |
45,756,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7911:Abcc8
|
UTSW |
7 |
45,803,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Abcc8
|
UTSW |
7 |
45,754,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8089:Abcc8
|
UTSW |
7 |
45,757,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8120:Abcc8
|
UTSW |
7 |
45,786,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8394:Abcc8
|
UTSW |
7 |
45,803,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8731:Abcc8
|
UTSW |
7 |
45,803,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8848:Abcc8
|
UTSW |
7 |
45,766,769 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8938:Abcc8
|
UTSW |
7 |
45,816,418 (GRCm39) |
missense |
|
|
|
R9246:Abcc8
|
UTSW |
7 |
45,774,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9293:Abcc8
|
UTSW |
7 |
45,756,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Abcc8
|
UTSW |
7 |
45,819,270 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9516:Abcc8
|
UTSW |
7 |
45,787,429 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9541:Abcc8
|
UTSW |
7 |
45,801,079 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9701:Abcc8
|
UTSW |
7 |
45,786,054 (GRCm39) |
missense |
probably benign |
|
|
R9802:Abcc8
|
UTSW |
7 |
45,786,054 (GRCm39) |
missense |
probably benign |
|
|
U15987:Abcc8
|
UTSW |
7 |
45,755,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Abcc8
|
UTSW |
7 |
45,787,489 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Abcc8
|
UTSW |
7 |
45,756,389 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Abcc8
|
UTSW |
7 |
45,803,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Abcc8
|
UTSW |
7 |
45,772,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTTTGAAGAGCACATGCG -3'
(R):5'- TTGAGCCCCAGAGAGGTTAG -3'
Sequencing Primer
(F):5'- caGAGCTCCATAGTCTGT -3'
(R):5'- TGGTCCAAGGCCTTGTAGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation