Incidental Mutation 'R6413:Slc44a5'
| ID |
514803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a5
|
| Ensembl Gene |
ENSMUSG00000028360 |
| Gene Name |
solute carrier family 44, member 5 |
| Synonyms |
LOC242259 |
| MMRRC Submission |
044555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153963387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 388
(F388S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089948
AA Change: F388S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: F388S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
323 |
683 |
6.3e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144677
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
| Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
| E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
| Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
| Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
| Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
| Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
| Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
probably damaging |
Het |
|
| Other mutations in Slc44a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Slc44a5
|
APN |
3 |
153,968,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Slc44a5
|
APN |
3 |
153,968,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02219:Slc44a5
|
APN |
3 |
153,944,796 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02220:Slc44a5
|
APN |
3 |
153,956,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02314:Slc44a5
|
APN |
3 |
153,962,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Slc44a5
|
APN |
3 |
153,962,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Slc44a5
|
APN |
3 |
153,956,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03117:Slc44a5
|
APN |
3 |
153,956,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03144:Slc44a5
|
APN |
3 |
153,949,177 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4486001:Slc44a5
|
UTSW |
3 |
153,964,659 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0026:Slc44a5
|
UTSW |
3 |
153,945,907 (GRCm39) |
splice site |
probably benign |
|
|
R0190:Slc44a5
|
UTSW |
3 |
153,944,755 (GRCm39) |
missense |
probably null |
0.00 |
|
R0306:Slc44a5
|
UTSW |
3 |
153,975,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Slc44a5
|
UTSW |
3 |
153,939,782 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Slc44a5
|
UTSW |
3 |
153,949,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Slc44a5
|
UTSW |
3 |
153,963,357 (GRCm39) |
splice site |
probably null |
|
|
R1370:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1613:Slc44a5
|
UTSW |
3 |
153,963,351 (GRCm39) |
splice site |
probably null |
|
|
R1713:Slc44a5
|
UTSW |
3 |
153,944,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1999:Slc44a5
|
UTSW |
3 |
153,964,130 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2143:Slc44a5
|
UTSW |
3 |
153,964,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2293:Slc44a5
|
UTSW |
3 |
153,945,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2367:Slc44a5
|
UTSW |
3 |
153,953,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3842:Slc44a5
|
UTSW |
3 |
153,967,031 (GRCm39) |
splice site |
probably benign |
|
|
R3953:Slc44a5
|
UTSW |
3 |
153,877,209 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4163:Slc44a5
|
UTSW |
3 |
153,967,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4509:Slc44a5
|
UTSW |
3 |
153,939,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Slc44a5
|
UTSW |
3 |
153,962,221 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4936:Slc44a5
|
UTSW |
3 |
153,959,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Slc44a5
|
UTSW |
3 |
153,949,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5083:Slc44a5
|
UTSW |
3 |
153,953,424 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5257:Slc44a5
|
UTSW |
3 |
153,948,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Slc44a5
|
UTSW |
3 |
153,966,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5586:Slc44a5
|
UTSW |
3 |
153,975,802 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5856:Slc44a5
|
UTSW |
3 |
153,964,029 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5894:Slc44a5
|
UTSW |
3 |
153,962,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Slc44a5
|
UTSW |
3 |
153,944,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6248:Slc44a5
|
UTSW |
3 |
153,969,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6454:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6594:Slc44a5
|
UTSW |
3 |
153,964,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6761:Slc44a5
|
UTSW |
3 |
153,945,714 (GRCm39) |
splice site |
probably null |
|
|
R6931:Slc44a5
|
UTSW |
3 |
153,964,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7027:Slc44a5
|
UTSW |
3 |
153,959,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Slc44a5
|
UTSW |
3 |
153,975,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Slc44a5
|
UTSW |
3 |
153,679,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8011:Slc44a5
|
UTSW |
3 |
153,953,447 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8085:Slc44a5
|
UTSW |
3 |
153,928,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Slc44a5
|
UTSW |
3 |
153,975,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8765:Slc44a5
|
UTSW |
3 |
153,968,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9154:Slc44a5
|
UTSW |
3 |
153,953,373 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9291:Slc44a5
|
UTSW |
3 |
153,962,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9328:Slc44a5
|
UTSW |
3 |
153,964,678 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9647:Slc44a5
|
UTSW |
3 |
153,953,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9666:Slc44a5
|
UTSW |
3 |
153,945,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9695:Slc44a5
|
UTSW |
3 |
153,956,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Slc44a5
|
UTSW |
3 |
153,959,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATATAACTCAGGGCCTGCTCAG -3'
(R):5'- AGACAAGTGAGCTTTGTCCTG -3'
Sequencing Primer
(F):5'- CAGTGCAGCTGGCCTATGATATC -3'
(R):5'- ATGCCTTCCTGATAATATAATACCCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation