Incidental Mutation 'R7272:Slc44a3'
| ID |
565339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| MMRRC Submission |
045391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121254764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 618
(D618G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029773]
[ENSMUST00000039197]
[ENSMUST00000197135]
[ENSMUST00000198393]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029773
|
| SMART Domains |
Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
125 |
3.92e-27 |
SMART |
|
Pfam:Calponin
|
164 |
188 |
1.1e-19 |
PFAM |
|
Pfam:Calponin
|
204 |
228 |
7.4e-17 |
PFAM |
|
Pfam:Calponin
|
243 |
267 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039197
AA Change: D618G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: D618G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
291 |
607 |
2.3e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197135
|
| SMART Domains |
Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
120 |
8.6e-10 |
SMART |
|
Pfam:Calponin
|
158 |
183 |
1e-10 |
PFAM |
|
Pfam:Calponin
|
197 |
222 |
9.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198393
|
| SMART Domains |
Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CH
|
1 |
28 |
7e-12 |
BLAST |
|
SCOP:d1h67a_
|
1 |
35 |
9e-9 |
SMART |
|
PDB:1WYN|A
|
1 |
53 |
3e-21 |
PDB |
|
Pfam:Calponin
|
67 |
92 |
1.2e-14 |
PFAM |
|
Pfam:Calponin
|
107 |
132 |
3.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199499
|
| Meta Mutation Damage Score |
0.2443 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,655 (GRCm39) |
I1020T |
probably benign |
Het |
| 2310057N15Rik |
A |
T |
16: 88,570,523 (GRCm39) |
Y172* |
probably null |
Het |
| 4930558K02Rik |
T |
A |
1: 161,770,092 (GRCm39) |
Y139F |
possibly damaging |
Het |
| A830018L16Rik |
T |
G |
1: 11,658,695 (GRCm39) |
M202R |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,287,591 (GRCm39) |
E2450G |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,736,782 (GRCm39) |
R3034H |
unknown |
Het |
| Anxa9 |
A |
G |
3: 95,213,184 (GRCm39) |
I54T |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,961,941 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,386,066 (GRCm39) |
I570T |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,302,045 (GRCm39) |
I247F |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,829,334 (GRCm39) |
V130A |
probably damaging |
Het |
| Cep89 |
A |
T |
7: 35,137,888 (GRCm39) |
R757S |
probably benign |
Het |
| Cryga |
A |
T |
1: 65,142,381 (GRCm39) |
I4N |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,764 (GRCm39) |
Y194F |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,143 (GRCm39) |
R44H |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,903,511 (GRCm39) |
Q363* |
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,070,848 (GRCm39) |
T64A |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,324,365 (GRCm39) |
S763T |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,804,245 (GRCm39) |
F1169L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,576 (GRCm39) |
L237P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,710 (GRCm39) |
E356G |
probably damaging |
Het |
| Krt33a |
C |
T |
11: 99,902,837 (GRCm39) |
R329Q |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,552 (GRCm39) |
G1657C |
probably damaging |
Het |
| Marchf3 |
T |
G |
18: 56,895,593 (GRCm39) |
R217S |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,978,547 (GRCm39) |
T660S |
probably damaging |
Het |
| Ms4a7 |
T |
A |
19: 11,310,642 (GRCm39) |
K59* |
probably null |
Het |
| Mss51 |
G |
A |
14: 20,534,981 (GRCm39) |
T263I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,385 (GRCm39) |
M199V |
probably benign |
Het |
| Ndufa4 |
G |
A |
6: 11,905,209 (GRCm39) |
Q62* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,214,212 (GRCm39) |
T456A |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,578,120 (GRCm39) |
M1214T |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,718,064 (GRCm39) |
L710F |
probably damaging |
Het |
| Nynrin |
G |
T |
14: 56,107,872 (GRCm39) |
G993V |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,689,695 (GRCm39) |
D296V |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,052,621 (GRCm39) |
Y155N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,153 (GRCm39) |
I3595V |
possibly damaging |
Het |
| Pom121 |
G |
A |
5: 135,409,941 (GRCm39) |
T1072I |
unknown |
Het |
| Sdc1 |
T |
A |
12: 8,840,554 (GRCm39) |
H106Q |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,401,878 (GRCm39) |
D755G |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,387 (GRCm39) |
Y783C |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,975,006 (GRCm39) |
|
probably null |
Het |
| Spindoc |
C |
T |
19: 7,360,085 (GRCm39) |
E28K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,064,859 (GRCm39) |
D1880G |
possibly damaging |
Het |
| Sspn |
T |
A |
6: 145,907,200 (GRCm39) |
D210E |
probably benign |
Het |
| Stx12 |
A |
T |
4: 132,584,687 (GRCm39) |
I219K |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,417 (GRCm39) |
V508A |
probably benign |
Het |
| Tkt |
G |
T |
14: 30,287,564 (GRCm39) |
R186L |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,860,527 (GRCm39) |
M241K |
probably damaging |
Het |
| Vgll2 |
C |
A |
10: 51,903,758 (GRCm39) |
A207E |
possibly damaging |
Het |
| Vmn1r114 |
A |
G |
7: 20,545,543 (GRCm39) |
F190S |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,453,094 (GRCm39) |
|
probably null |
Het |
| Yrdc |
G |
A |
4: 124,744,820 (GRCm39) |
A85T |
probably benign |
Het |
| Zfp385c |
C |
T |
11: 100,520,865 (GRCm39) |
R265K |
possibly damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,392,409 (GRCm39) |
I1310F |
probably damaging |
Het |
|
| Other mutations in Slc44a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Slc44a3
|
APN |
3 |
121,320,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Slc44a3
|
APN |
3 |
121,320,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Slc44a3
|
APN |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02419:Slc44a3
|
APN |
3 |
121,283,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02836:Slc44a3
|
APN |
3 |
121,325,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Slc44a3
|
APN |
3 |
121,303,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03219:Slc44a3
|
APN |
3 |
121,257,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
BB019:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0597:Slc44a3
|
UTSW |
3 |
121,253,719 (GRCm39) |
missense |
probably benign |
|
|
R0668:Slc44a3
|
UTSW |
3 |
121,303,852 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1355:Slc44a3
|
UTSW |
3 |
121,325,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Slc44a3
|
UTSW |
3 |
121,291,496 (GRCm39) |
nonsense |
probably null |
|
|
R1617:Slc44a3
|
UTSW |
3 |
121,254,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1912:Slc44a3
|
UTSW |
3 |
121,325,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Slc44a3
|
UTSW |
3 |
121,257,059 (GRCm39) |
splice site |
probably benign |
|
|
R2087:Slc44a3
|
UTSW |
3 |
121,319,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Slc44a3
|
UTSW |
3 |
121,307,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4707:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4736:Slc44a3
|
UTSW |
3 |
121,303,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4784:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4785:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5302:Slc44a3
|
UTSW |
3 |
121,303,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Slc44a3
|
UTSW |
3 |
121,320,849 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6252:Slc44a3
|
UTSW |
3 |
121,307,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6991:Slc44a3
|
UTSW |
3 |
121,325,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7197:Slc44a3
|
UTSW |
3 |
121,319,411 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7227:Slc44a3
|
UTSW |
3 |
121,303,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7932:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8104:Slc44a3
|
UTSW |
3 |
121,291,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8529:Slc44a3
|
UTSW |
3 |
121,319,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8679:Slc44a3
|
UTSW |
3 |
121,283,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Slc44a3
|
UTSW |
3 |
121,307,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Slc44a3
|
UTSW |
3 |
121,320,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Slc44a3
|
UTSW |
3 |
121,254,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Slc44a3
|
UTSW |
3 |
121,325,908 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Slc44a3
|
UTSW |
3 |
121,325,900 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Slc44a3
|
UTSW |
3 |
121,291,399 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCACCTCTGGACTGGG -3'
(R):5'- ATGGCGTTTAACTACAGCCGTG -3'
Sequencing Primer
(F):5'- CACCTCTGGACTGGGAGTTTC -3'
(R):5'- GTGCGCTCCAGGTGTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation