Incidental Mutation 'R3763:Slc44a1'
| ID |
270584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a1
|
| Ensembl Gene |
ENSMUSG00000028412 |
| Gene Name |
solute carrier family 44, member 1 |
| Synonyms |
2210409B22Rik, CHTL1, Cdw92, 4833416H08Rik, CTL1 |
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
53440413-53622478 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53563286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 671
(V671A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102911]
[ENSMUST00000107645]
[ENSMUST00000107647]
[ENSMUST00000107651]
|
| AlphaFold |
Q6X893 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102911
|
| SMART Domains |
Protein: ENSMUSP00000099975
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 |
610 |
2.4e-107 |
PFAM |
|
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107645
|
| SMART Domains |
Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
| 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: ENSMUST00000107647
AA Change: V671A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V671A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103278
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 |
610 |
3.5e-108 |
PFAM |
|
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138377
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTTAATGCCGTGCACTC -3'
(R):5'- CTGACAGCAAGAAAACCAGCTTTG -3'
Sequencing Primer
(F):5'- GCACTCCATGTTTTGCAGGAG -3'
(R):5'- AACCAGCTTTGACTCGGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation