Incidental Mutation 'IGL02188:Slc44a1'
| ID |
283740 |
| 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 # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
53440413-53622478 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53541361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102911]
[ENSMUST00000107645]
[ENSMUST00000107646]
[ENSMUST00000107647]
[ENSMUST00000107651]
|
| AlphaFold |
Q6X893 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102911
AA Change: V273A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V273A
| 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: V66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
AA Change: V66A
| 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
AA Change: V273A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: V273A
| 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 |
probably benign
Transcript: ENSMUST00000107647
AA Change: V273A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V273A
| 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 |
probably benign
Transcript: ENSMUST00000107651
AA Change: V273A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V273A
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
| Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
IGL00420:Slc44a1
|
APN |
4 |
53,553,550 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation