Incidental Mutation 'R6952:Abcf3'
| ID |
568478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcf3
|
| Ensembl Gene |
ENSMUSG00000003234 |
| Gene Name |
ATP-binding cassette, sub-family F member 3 |
| Synonyms |
|
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 20368484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000007216]
[ENSMUST00000232490]
[ENSMUST00000232680]
|
| AlphaFold |
Q8K268 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003319
|
| SMART Domains |
Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
137 |
N/A |
INTRINSIC |
|
AAA
|
202 |
401 |
3.23e-11 |
SMART |
|
low complexity region
|
423 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
AAA
|
517 |
684 |
4.68e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007216
|
| SMART Domains |
Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
137 |
6.7e-8 |
PFAM |
|
Pfam:Adap_comp_sub
|
159 |
435 |
3.2e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231258
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232490
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232680
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
Het |
|
| Other mutations in Abcf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Abcf3
|
APN |
16 |
20,370,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01570:Abcf3
|
APN |
16 |
20,378,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Abcf3
|
APN |
16 |
20,369,386 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0158:Abcf3
|
UTSW |
16 |
20,371,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Abcf3
|
UTSW |
16 |
20,378,918 (GRCm39) |
splice site |
probably null |
|
|
R0579:Abcf3
|
UTSW |
16 |
20,369,398 (GRCm39) |
missense |
probably benign |
|
|
R0671:Abcf3
|
UTSW |
16 |
20,369,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Abcf3
|
UTSW |
16 |
20,378,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Abcf3
|
UTSW |
16 |
20,378,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Abcf3
|
UTSW |
16 |
20,379,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2356:Abcf3
|
UTSW |
16 |
20,379,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2910:Abcf3
|
UTSW |
16 |
20,378,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2911:Abcf3
|
UTSW |
16 |
20,378,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3081:Abcf3
|
UTSW |
16 |
20,378,114 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3852:Abcf3
|
UTSW |
16 |
20,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Abcf3
|
UTSW |
16 |
20,367,808 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4752:Abcf3
|
UTSW |
16 |
20,369,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Abcf3
|
UTSW |
16 |
20,370,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5672:Abcf3
|
UTSW |
16 |
20,368,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5817:Abcf3
|
UTSW |
16 |
20,367,833 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6013:Abcf3
|
UTSW |
16 |
20,369,311 (GRCm39) |
splice site |
probably null |
|
|
R6019:Abcf3
|
UTSW |
16 |
20,371,201 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6026:Abcf3
|
UTSW |
16 |
20,369,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Abcf3
|
UTSW |
16 |
20,367,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7431:Abcf3
|
UTSW |
16 |
20,377,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7539:Abcf3
|
UTSW |
16 |
20,371,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7764:Abcf3
|
UTSW |
16 |
20,368,040 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8358:Abcf3
|
UTSW |
16 |
20,367,796 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8391:Abcf3
|
UTSW |
16 |
20,368,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8416:Abcf3
|
UTSW |
16 |
20,369,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8821:Abcf3
|
UTSW |
16 |
20,369,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Abcf3
|
UTSW |
16 |
20,369,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Abcf3
|
UTSW |
16 |
20,368,056 (GRCm39) |
missense |
probably benign |
|
|
R9160:Abcf3
|
UTSW |
16 |
20,379,246 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9501:Abcf3
|
UTSW |
16 |
20,379,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Abcf3
|
UTSW |
16 |
20,378,447 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTAACCAACAGCGTGGTC -3'
(R):5'- AGGAACTCCAGAGATTACTGCAAAC -3'
Sequencing Primer
(F):5'- GGTCTTAAAAGAGTACATTGGGCTC -3'
(R):5'- ACTTACCCATGACGCTACATAAG -3'
|
| Posted On |
2019-08-05 |
Incidental Mutation