Incidental Mutation 'R1999:Slc44a5'
ID |
224686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a5
|
Ensembl Gene |
ENSMUSG00000028360 |
Gene Name |
solute carrier family 44, member 5 |
Synonyms |
LOC242259 |
MMRRC Submission |
040009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R1999 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 153964130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 499
(F499L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
AlphaFold |
Q5RJI2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089948
AA Change: F499L
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000087394 Gene: ENSMUSG00000028360 AA Change: F499L
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
Ambp |
C |
T |
4: 63,067,666 (GRCm39) |
M181I |
possibly damaging |
Het |
Anln |
A |
G |
9: 22,244,348 (GRCm39) |
*1122Q |
probably null |
Het |
Apc2 |
C |
T |
10: 80,144,994 (GRCm39) |
T635I |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
Bltp1 |
C |
T |
3: 36,962,360 (GRCm39) |
T487I |
probably damaging |
Het |
Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,481,172 (GRCm39) |
K306N |
possibly damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,915 (GRCm39) |
R310G |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,746,977 (GRCm39) |
T538A |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
Diaph3 |
T |
A |
14: 87,222,302 (GRCm39) |
D405V |
possibly damaging |
Het |
Dync1h1 |
T |
C |
12: 110,632,857 (GRCm39) |
|
probably null |
Het |
Epha7 |
C |
T |
4: 28,938,686 (GRCm39) |
Q514* |
probably null |
Het |
Etfb |
C |
T |
7: 43,103,987 (GRCm39) |
L141F |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,405,430 (GRCm39) |
V727A |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,472,428 (GRCm39) |
S811G |
probably null |
Het |
Kcnt1 |
T |
A |
2: 25,782,372 (GRCm39) |
H156Q |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,988,517 (GRCm39) |
N507S |
probably damaging |
Het |
Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
Medag |
T |
A |
5: 149,350,717 (GRCm39) |
F64Y |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,530,856 (GRCm39) |
S331R |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,151 (GRCm39) |
S502P |
possibly damaging |
Het |
Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or8k30 |
T |
A |
2: 86,339,089 (GRCm39) |
Y95* |
probably null |
Het |
Otof |
T |
A |
5: 30,546,116 (GRCm39) |
E427D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,094 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,496,621 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,589,575 (GRCm39) |
V459A |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,297 (GRCm39) |
V492I |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
Ssc5d |
A |
T |
7: 4,945,713 (GRCm39) |
D915V |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,523,349 (GRCm39) |
D668G |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,271,780 (GRCm39) |
D73G |
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
G |
A |
4: 43,681,300 (GRCm39) |
C439Y |
probably damaging |
Het |
Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
Vmn2r-ps158 |
A |
T |
7: 42,696,883 (GRCm39) |
I647F |
probably damaging |
Het |
Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
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 |
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'- TCTATGGCGGAAGGAGCATG -3'
(R):5'- GAATACGGGCTTTAGGACATTG -3'
Sequencing Primer
(F):5'- GGAGCATGTACCACAATTACATCCTG -3'
(R):5'- TTTAGGACATTGACCCAGGC -3'
|
Posted On |
2014-08-25 |