Incidental Mutation 'IGL00420:Slc44a1'
ID |
6668 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc44a1
|
Ensembl Gene |
ENSMUSG00000028412 |
Gene Name |
solute carrier family 44, member 1 |
Synonyms |
2210409B22Rik, CHTL1, Cdw92, 4833416H08Rik, CTL1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00420
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
53440413-53622478 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53553550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 519
(V519A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102911]
[ENSMUST00000107645]
[ENSMUST00000107646]
[ENSMUST00000107647]
[ENSMUST00000107651]
|
AlphaFold |
Q6X893 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102911
AA Change: V519A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099975 Gene: ENSMUSG00000028412 AA Change: V519A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
290 |
610 |
2.4e-107 |
PFAM |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107645
AA Change: V312A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103272 Gene: ENSMUSG00000028412 AA Change: V312A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
83 |
403 |
4.8e-108 |
PFAM |
low complexity region
|
423 |
436 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107646
|
SMART Domains |
Protein: ENSMUSP00000103273 Gene: ENSMUSG00000028412
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
290 |
500 |
4.9e-69 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107647
AA Change: V519A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103274 Gene: ENSMUSG00000028412 AA Change: V519A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
292 |
607 |
1.8e-105 |
PFAM |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107651
AA Change: V519A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103278 Gene: ENSMUSG00000028412 AA Change: V519A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
290 |
610 |
3.5e-108 |
PFAM |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
Ces1c |
T |
C |
8: 93,833,301 (GRCm39) |
E388G |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
Lonrf1 |
T |
C |
8: 36,697,231 (GRCm39) |
|
probably benign |
Het |
Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
Pced1a |
A |
T |
2: 130,261,098 (GRCm39) |
C420S |
probably benign |
Het |
Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
Slc2a8 |
G |
T |
2: 32,863,636 (GRCm39) |
Q469K |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
Zfp51 |
A |
T |
17: 21,683,714 (GRCm39) |
M110L |
probably benign |
Het |
Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
Other mutations in Slc44a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Slc44a1
|
APN |
4 |
53,543,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01369:Slc44a1
|
APN |
4 |
53,491,448 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01867:Slc44a1
|
APN |
4 |
53,536,405 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02188:Slc44a1
|
APN |
4 |
53,541,361 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03095:Slc44a1
|
APN |
4 |
53,536,374 (GRCm39) |
nonsense |
probably null |
|
R0517:Slc44a1
|
UTSW |
4 |
53,542,366 (GRCm39) |
missense |
probably damaging |
0.99 |
R0815:Slc44a1
|
UTSW |
4 |
53,536,421 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1437:Slc44a1
|
UTSW |
4 |
53,561,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R1443:Slc44a1
|
UTSW |
4 |
53,561,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Slc44a1
|
UTSW |
4 |
53,542,468 (GRCm39) |
missense |
probably benign |
0.04 |
R2037:Slc44a1
|
UTSW |
4 |
53,563,243 (GRCm39) |
intron |
probably benign |
|
R2131:Slc44a1
|
UTSW |
4 |
53,563,246 (GRCm39) |
frame shift |
probably null |
|
R3417:Slc44a1
|
UTSW |
4 |
53,553,549 (GRCm39) |
missense |
probably benign |
0.04 |
R3721:Slc44a1
|
UTSW |
4 |
53,491,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Slc44a1
|
UTSW |
4 |
53,563,286 (GRCm39) |
missense |
probably benign |
0.45 |
R4426:Slc44a1
|
UTSW |
4 |
53,563,286 (GRCm39) |
missense |
probably benign |
0.45 |
R4751:Slc44a1
|
UTSW |
4 |
53,560,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Slc44a1
|
UTSW |
4 |
53,543,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R5853:Slc44a1
|
UTSW |
4 |
53,528,682 (GRCm39) |
missense |
probably benign |
0.00 |
R6293:Slc44a1
|
UTSW |
4 |
53,561,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R6978:Slc44a1
|
UTSW |
4 |
53,544,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Slc44a1
|
UTSW |
4 |
53,528,711 (GRCm39) |
missense |
probably benign |
0.09 |
R7838:Slc44a1
|
UTSW |
4 |
53,517,657 (GRCm39) |
missense |
probably benign |
0.01 |
R8127:Slc44a1
|
UTSW |
4 |
53,528,714 (GRCm39) |
missense |
probably benign |
0.00 |
R8681:Slc44a1
|
UTSW |
4 |
53,481,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R8922:Slc44a1
|
UTSW |
4 |
53,544,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R9524:Slc44a1
|
UTSW |
4 |
53,542,389 (GRCm39) |
missense |
probably benign |
0.00 |
R9596:Slc44a1
|
UTSW |
4 |
53,544,553 (GRCm39) |
missense |
probably benign |
0.12 |
R9726:Slc44a1
|
UTSW |
4 |
53,491,410 (GRCm39) |
missense |
probably benign |
0.25 |
Z1176:Slc44a1
|
UTSW |
4 |
53,553,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |