Incidental Mutation 'R5869:Slc5a5'
| ID |
501957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a5
|
| Ensembl Gene |
ENSMUSG00000000792 |
| Gene Name |
solute carrier family 5 (sodium iodide symporter), member 5 |
| Synonyms |
NIS |
| MMRRC Submission |
044077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5869 (G1)
|
| Quality Score |
32 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71335533-71345401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71344974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 111
(R111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000809]
[ENSMUST00000054220]
[ENSMUST00000212129]
[ENSMUST00000212378]
[ENSMUST00000212709]
[ENSMUST00000212494]
[ENSMUST00000212796]
[ENSMUST00000213053]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000809
AA Change: R111L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: R111L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
47 |
452 |
2.5e-43 |
PFAM |
|
transmembrane domain
|
522 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054220
|
| SMART Domains |
Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L18ae
|
7 |
130 |
1.4e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213053
|
| Meta Mutation Damage Score |
0.4917 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
93% (68/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced T3 and T4 levels when fed a minimal iodine diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
| Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Aspscr1 |
T |
C |
11: 120,579,746 (GRCm39) |
I31T |
possibly damaging |
Het |
| Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
| Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
| Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
| Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
| Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
| Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
| Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
| Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
| Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
| Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
| Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
| Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
| Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
| Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
| Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
| Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,526,379 (GRCm39) |
V855G |
probably benign |
Het |
| Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
| Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
| Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
| Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,069 (GRCm39) |
H99Q |
probably damaging |
Het |
|
| Other mutations in Slc5a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Slc5a5
|
APN |
8 |
71,341,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01372:Slc5a5
|
APN |
8 |
71,343,020 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01394:Slc5a5
|
APN |
8 |
71,342,032 (GRCm39) |
nonsense |
probably null |
|
|
IGL01571:Slc5a5
|
APN |
8 |
71,343,976 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02043:Slc5a5
|
APN |
8 |
71,345,073 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02186:Slc5a5
|
APN |
8 |
71,338,764 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02479:Slc5a5
|
APN |
8 |
71,341,555 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02559:Slc5a5
|
APN |
8 |
71,342,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Slc5a5
|
APN |
8 |
71,345,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Slc5a5
|
APN |
8 |
71,342,972 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0234:Slc5a5
|
UTSW |
8 |
71,342,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Slc5a5
|
UTSW |
8 |
71,342,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Slc5a5
|
UTSW |
8 |
71,344,319 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0662:Slc5a5
|
UTSW |
8 |
71,336,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0781:Slc5a5
|
UTSW |
8 |
71,342,864 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1061:Slc5a5
|
UTSW |
8 |
71,342,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1400:Slc5a5
|
UTSW |
8 |
71,342,079 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1524:Slc5a5
|
UTSW |
8 |
71,344,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Slc5a5
|
UTSW |
8 |
71,341,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2072:Slc5a5
|
UTSW |
8 |
71,345,083 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2075:Slc5a5
|
UTSW |
8 |
71,345,083 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2110:Slc5a5
|
UTSW |
8 |
71,342,395 (GRCm39) |
splice site |
probably null |
|
|
R2111:Slc5a5
|
UTSW |
8 |
71,342,395 (GRCm39) |
splice site |
probably null |
|
|
R2112:Slc5a5
|
UTSW |
8 |
71,342,395 (GRCm39) |
splice site |
probably null |
|
|
R2201:Slc5a5
|
UTSW |
8 |
71,345,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3978:Slc5a5
|
UTSW |
8 |
71,342,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4244:Slc5a5
|
UTSW |
8 |
71,342,930 (GRCm39) |
missense |
probably benign |
|
|
R5161:Slc5a5
|
UTSW |
8 |
71,341,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Slc5a5
|
UTSW |
8 |
71,343,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Slc5a5
|
UTSW |
8 |
71,340,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5740:Slc5a5
|
UTSW |
8 |
71,341,561 (GRCm39) |
splice site |
probably null |
|
|
R6268:Slc5a5
|
UTSW |
8 |
71,341,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Slc5a5
|
UTSW |
8 |
71,343,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Slc5a5
|
UTSW |
8 |
71,343,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Slc5a5
|
UTSW |
8 |
71,341,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Slc5a5
|
UTSW |
8 |
71,342,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Slc5a5
|
UTSW |
8 |
71,343,934 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8777-TAIL:Slc5a5
|
UTSW |
8 |
71,343,934 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8903:Slc5a5
|
UTSW |
8 |
71,345,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Slc5a5
|
UTSW |
8 |
71,337,596 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCGTTTGAACTCTGTCGG -3'
(R):5'- GTTACCTGTCTCCATGGAGG -3'
Sequencing Primer
(F):5'- TTGAACTCTGTCGGGCGCC -3'
(R):5'- TGTTCGCGACCATGCTG -3'
|
| Posted On |
2018-01-31 |
Incidental Mutation