Incidental Mutation 'R7688:Slc44a5'
ID |
593191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a5
|
Ensembl Gene |
ENSMUSG00000028360 |
Gene Name |
solute carrier family 44, member 5 |
Synonyms |
LOC242259 |
MMRRC Submission |
045752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7688 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 153679437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
[ENSMUST00000089948]
|
AlphaFold |
Q5RJI2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089948
|
SMART Domains |
Protein: ENSMUSP00000087394 Gene: ENSMUSG00000028360
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 |
probably null
Transcript: ENSMUST00000089948
|
SMART Domains |
Protein: ENSMUSP00000087394 Gene: ENSMUSG00000028360
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
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 |
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 |
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'- ATCCTGCTGACTGGAATGTCC -3'
(R):5'- AGAGACAAACTCCTTCTCAAGAGTC -3'
Sequencing Primer
(F):5'- TACCAACTGTCGCTGGACG -3'
(R):5'- TTCTCAAGAGTCCCCGAGG -3'
|
Posted On |
2019-11-12 |