Incidental Mutation 'R0919:Slc44a5'
ID |
81577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a5
|
Ensembl Gene |
ENSMUSG00000028360 |
Gene Name |
solute carrier family 44, member 5 |
Synonyms |
LOC242259 |
MMRRC Submission |
039069-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R0919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 153949223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 232
(Y232C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
AlphaFold |
Q5RJI2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089948
AA Change: Y232C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087394 Gene: ENSMUSG00000028360 AA Change: Y232C
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: ENSMUST00000200319
|
Meta Mutation Damage Score |
0.6622 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
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 |
R6413:Slc44a5
|
UTSW |
3 |
153,963,387 (GRCm39) |
missense |
probably benign |
0.21 |
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'- GCTGCGAAGTATGTCTGCATTTCTG -3'
(R):5'- GAAGTCAAACTATGCCCACCCTCTG -3'
Sequencing Primer
(F):5'- TGGCAGATGCTGTCTAAGACC -3'
(R):5'- TGAACCTTACAGTCTTATGGGC -3'
|
Posted On |
2013-11-07 |