Incidental Mutation 'R5800:Slc19a1'
| ID |
447356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc19a1
|
| Ensembl Gene |
ENSMUSG00000001436 |
| Gene Name |
solute carrier family 19 (folate transporter), member 1 |
| Synonyms |
RFC-1, RFC1, reduced folate carrier |
| MMRRC Submission |
043389-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76868103-76886266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76878103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 213
(S213G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105410]
[ENSMUST00000130703]
[ENSMUST00000132984]
[ENSMUST00000133059]
[ENSMUST00000136150]
[ENSMUST00000136925]
[ENSMUST00000144234]
|
| AlphaFold |
P41438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105410
AA Change: S213G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436
AA Change: S213G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
427 |
3e-167 |
PFAM |
|
Pfam:MFS_1
|
66 |
406 |
2.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130703
|
| SMART Domains |
Protein: ENSMUSP00000115658
Gene: ENSMUSG00000001436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
64 |
9.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131031
|
| SMART Domains |
Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
1 |
112 |
1.3e-45 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132984
AA Change: S213G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000116657
Gene: ENSMUSG00000001436
AA Change: S213G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
233 |
4.8e-88 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133059
|
| SMART Domains |
Protein: ENSMUSP00000120266
Gene: ENSMUSG00000001436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
70 |
7.3e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136150
AA Change: S213G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121237
Gene: ENSMUSG00000001436
AA Change: S213G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
242 |
1.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136925
AA Change: S213G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000119382
Gene: ENSMUSG00000001436
AA Change: S213G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
426 |
7.8e-163 |
PFAM |
|
Pfam:MFS_1
|
66 |
405 |
4.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144234
AA Change: S213G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436
AA Change: S213G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
23 |
427 |
3e-167 |
PFAM |
|
Pfam:MFS_1
|
66 |
406 |
2.6e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
| Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
| B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
| Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
| Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
| Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
| Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
| H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
| Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
| Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
| Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
| Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
| Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
| Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
| Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
| Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably damaging |
Het |
|
| Other mutations in Slc19a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0112:Slc19a1
|
UTSW |
10 |
76,877,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0211:Slc19a1
|
UTSW |
10 |
76,874,300 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0419:Slc19a1
|
UTSW |
10 |
76,878,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Slc19a1
|
UTSW |
10 |
76,878,369 (GRCm39) |
nonsense |
probably null |
|
|
R1725:Slc19a1
|
UTSW |
10 |
76,877,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2202:Slc19a1
|
UTSW |
10 |
76,877,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2203:Slc19a1
|
UTSW |
10 |
76,877,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2221:Slc19a1
|
UTSW |
10 |
76,878,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3861:Slc19a1
|
UTSW |
10 |
76,877,809 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3968:Slc19a1
|
UTSW |
10 |
76,877,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6106:Slc19a1
|
UTSW |
10 |
76,880,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6501:Slc19a1
|
UTSW |
10 |
76,885,440 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6992:Slc19a1
|
UTSW |
10 |
76,885,540 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7909:Slc19a1
|
UTSW |
10 |
76,885,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Slc19a1
|
UTSW |
10 |
76,885,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9081:Slc19a1
|
UTSW |
10 |
76,877,750 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9457:Slc19a1
|
UTSW |
10 |
76,885,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTACTGCTGGGAGTCTTC -3'
(R):5'- TTCTCCACAGGACATGCAC -3'
Sequencing Primer
(F):5'- ACTGCTGGGAGTCTTCATCAGC -3'
(R):5'- TTCTCCACAGGACATGCACATAGTAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation