Incidental Mutation 'R8127:Slc44a1'
| ID |
631800 |
| 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 |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
53440413-53622478 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53528714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102911]
[ENSMUST00000107646]
[ENSMUST00000107647]
[ENSMUST00000107651]
|
| AlphaFold |
Q6X893 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102911
AA Change: S155P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: S155P
| 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: ENSMUST00000107646
AA Change: S155P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: S155P
| 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: S155P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: S155P
| 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: S155P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: S155P
| 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 |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,249 (GRCm39) |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,367,638 (GRCm39) |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,348,214 (GRCm39) |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,474,547 (GRCm39) |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,127,876 (GRCm39) |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,359,067 (GRCm39) |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,396 (GRCm39) |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,701 (GRCm39) |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,598,009 (GRCm39) |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,122 (GRCm39) |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,627,481 (GRCm39) |
I95K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,534,138 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
T |
C |
1: 31,262,201 (GRCm39) |
F61S |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,244,345 (GRCm39) |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,217,310 (GRCm39) |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,330,736 (GRCm39) |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,290,902 (GRCm39) |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,684,999 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,487 (GRCm39) |
R434S |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,630,334 (GRCm39) |
P66S |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,031 (GRCm39) |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,052,567 (GRCm39) |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,042,834 (GRCm39) |
C1033S |
probably damaging |
Het |
| Or6k4 |
C |
T |
1: 173,965,155 (GRCm39) |
P282S |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,731,613 (GRCm39) |
F176Y |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,515,653 (GRCm39) |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,910 (GRCm39) |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,005,093 (GRCm39) |
Q1406K |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,423,747 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,633,578 (GRCm39) |
G385D |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,970 (GRCm39) |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,691,271 (GRCm39) |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,122,284 (GRCm39) |
I128V |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,024,798 (GRCm39) |
D262G |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,146,262 (GRCm39) |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,239,043 (GRCm39) |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,716,463 (GRCm39) |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,845 (GRCm39) |
I197T |
probably benign |
Het |
| Wdtc1 |
C |
T |
4: 133,029,693 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
G |
T |
7: 6,326,821 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,642,185 (GRCm39) |
I1213F |
probably 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 |
|
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 |
|
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 |
|
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'- GTGCCTAAAGTCCATTAAATTGTGG -3'
(R):5'- CCGAGGGAAACTTGAAATATCTG -3'
Sequencing Primer
(F):5'- TGTGGATCATTTCAGAGAAAAGTG -3'
(R):5'- TCTGAGAACAAGAGAAGTTGTCTGTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation