Incidental Mutation 'R8035:Slc26a7'
| ID |
618170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a7
|
| Ensembl Gene |
ENSMUSG00000040569 |
| Gene Name |
solute carrier family 26, member 7 |
| Synonyms |
|
| MMRRC Submission |
067472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8035 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
14502430-14621805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 14621338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 16
(M16R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023917]
[ENSMUST00000042221]
[ENSMUST00000143105]
[ENSMUST00000149633]
|
| AlphaFold |
Q8R2Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023917
|
| SMART Domains |
Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
58 |
4.57e0 |
SMART |
|
LRR
|
59 |
81 |
2.82e0 |
SMART |
|
LRR
|
82 |
105 |
7.55e-1 |
SMART |
|
LRR
|
106 |
128 |
7.79e0 |
SMART |
|
LRR
|
129 |
151 |
1.99e0 |
SMART |
|
LRR
|
152 |
174 |
5.72e0 |
SMART |
|
LRR
|
175 |
197 |
3.86e0 |
SMART |
|
LRR
|
198 |
220 |
8.24e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042221
AA Change: M16R
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: M16R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
47 |
444 |
6.9e-95 |
PFAM |
|
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
493 |
637 |
4.7e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143105
AA Change: M16R
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122870
Gene: ENSMUSG00000040569
AA Change: M16R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
32 |
99 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149633
AA Change: M16R
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116157
Gene: ENSMUSG00000040569
AA Change: M16R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
32 |
115 |
9.9e-28 |
PFAM |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate. Urine is more concentrated and has an elevated pH. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,530,243 (GRCm39) |
V938A |
probably damaging |
Het |
| Acot7 |
A |
G |
4: 152,337,611 (GRCm39) |
T254A |
possibly damaging |
Het |
| Ankle2 |
C |
T |
5: 110,402,318 (GRCm39) |
R943C |
probably damaging |
Het |
| Arrdc2 |
T |
C |
8: 71,292,026 (GRCm39) |
K7R |
probably benign |
Het |
| Arsi |
T |
A |
18: 61,049,442 (GRCm39) |
H108Q |
probably damaging |
Het |
| Asap3 |
T |
C |
4: 135,968,514 (GRCm39) |
Y689H |
probably benign |
Het |
| Bnip3 |
G |
A |
7: 138,493,666 (GRCm39) |
T181I |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccdc168 |
A |
G |
1: 44,100,711 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ccdc6 |
A |
G |
10: 69,933,331 (GRCm39) |
I68V |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,829,012 (GRCm39) |
F116L |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,831,152 (GRCm39) |
V330F |
probably damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,318,350 (GRCm39) |
C155R |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,633,664 (GRCm39) |
A165V |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,470,675 (GRCm39) |
G439R |
probably damaging |
Het |
| Fam161b |
A |
T |
12: 84,395,430 (GRCm39) |
D504E |
probably damaging |
Het |
| Fdps |
G |
T |
3: 89,002,783 (GRCm39) |
P122T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,547,437 (GRCm39) |
Y1454H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,799,866 (GRCm39) |
E288G |
probably damaging |
Het |
| Gm21411 |
A |
C |
4: 146,982,167 (GRCm39) |
|
probably null |
Het |
| Hnrnpc |
C |
T |
14: 52,321,719 (GRCm39) |
D32N |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,982,859 (GRCm39) |
I239N |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,485 (GRCm39) |
N138D |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,921 (GRCm39) |
I69V |
possibly damaging |
Het |
| Itih1 |
A |
C |
14: 30,664,482 (GRCm39) |
D81E |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,781 (GRCm39) |
L624S |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,086 (GRCm39) |
M153V |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,854,302 (GRCm39) |
Y327* |
probably null |
Het |
| Lims1 |
T |
A |
10: 58,246,263 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,750,667 (GRCm39) |
I3080F |
|
Het |
| Mars2 |
C |
T |
1: 55,277,456 (GRCm39) |
T353I |
possibly damaging |
Het |
| Matn4 |
T |
C |
2: 164,238,960 (GRCm39) |
N307S |
probably damaging |
Het |
| Mettl17 |
C |
T |
14: 52,128,947 (GRCm39) |
H406Y |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,856 (GRCm39) |
M2271K |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,035,336 (GRCm39) |
E539G |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,757 (GRCm39) |
L31H |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,263 (GRCm39) |
F310L |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,490 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b38 |
C |
T |
9: 37,972,961 (GRCm39) |
T115I |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,806,109 (GRCm39) |
K1030R |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,721,311 (GRCm39) |
D119E |
probably damaging |
Het |
| Rgs9 |
A |
G |
11: 109,164,150 (GRCm39) |
I151T |
probably benign |
Het |
| Slx4ip |
T |
G |
2: 136,885,945 (GRCm39) |
Y88* |
probably null |
Het |
| Sppl2c |
T |
A |
11: 104,078,192 (GRCm39) |
W331R |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,784 (GRCm39) |
S1855P |
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,053 (GRCm39) |
F285L |
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,992,450 (GRCm39) |
A76E |
probably benign |
Het |
| Trip13 |
G |
C |
13: 74,061,373 (GRCm39) |
A430G |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,770,226 (GRCm39) |
E337G |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,937,004 (GRCm39) |
N1214K |
probably benign |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,377 (GRCm39) |
M1K |
probably null |
Het |
| Wdr72 |
T |
G |
9: 74,086,783 (GRCm39) |
|
probably benign |
Het |
| Zfp583 |
T |
C |
7: 6,319,771 (GRCm39) |
K414E |
probably damaging |
Het |
| Zfp940 |
A |
C |
7: 29,544,948 (GRCm39) |
S320A |
probably benign |
Het |
| Zfp979 |
A |
C |
4: 147,697,763 (GRCm39) |
C315W |
probably damaging |
Het |
|
| Other mutations in Slc26a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Slc26a7
|
APN |
4 |
14,548,403 (GRCm39) |
splice site |
probably benign |
|
|
IGL00943:Slc26a7
|
APN |
4 |
14,506,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01878:Slc26a7
|
APN |
4 |
14,519,388 (GRCm39) |
splice site |
probably null |
|
|
IGL02698:Slc26a7
|
APN |
4 |
14,593,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03133:Slc26a7
|
APN |
4 |
14,532,576 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0200:Slc26a7
|
UTSW |
4 |
14,621,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0240:Slc26a7
|
UTSW |
4 |
14,532,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Slc26a7
|
UTSW |
4 |
14,532,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Slc26a7
|
UTSW |
4 |
14,621,317 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0833:Slc26a7
|
UTSW |
4 |
14,593,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Slc26a7
|
UTSW |
4 |
14,506,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1592:Slc26a7
|
UTSW |
4 |
14,552,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1656:Slc26a7
|
UTSW |
4 |
14,621,221 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1758:Slc26a7
|
UTSW |
4 |
14,548,491 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1861:Slc26a7
|
UTSW |
4 |
14,522,873 (GRCm39) |
missense |
probably benign |
|
|
R2429:Slc26a7
|
UTSW |
4 |
14,506,399 (GRCm39) |
splice site |
probably benign |
|
|
R2850:Slc26a7
|
UTSW |
4 |
14,593,806 (GRCm39) |
splice site |
probably benign |
|
|
R3442:Slc26a7
|
UTSW |
4 |
14,565,511 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4158:Slc26a7
|
UTSW |
4 |
14,544,197 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4160:Slc26a7
|
UTSW |
4 |
14,544,197 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4721:Slc26a7
|
UTSW |
4 |
14,510,261 (GRCm39) |
splice site |
probably null |
|
|
R4727:Slc26a7
|
UTSW |
4 |
14,590,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Slc26a7
|
UTSW |
4 |
14,546,309 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4992:Slc26a7
|
UTSW |
4 |
14,565,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Slc26a7
|
UTSW |
4 |
14,532,572 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5344:Slc26a7
|
UTSW |
4 |
14,519,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5373:Slc26a7
|
UTSW |
4 |
14,546,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5540:Slc26a7
|
UTSW |
4 |
14,506,621 (GRCm39) |
missense |
probably benign |
|
|
R6046:Slc26a7
|
UTSW |
4 |
14,505,471 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6320:Slc26a7
|
UTSW |
4 |
14,524,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6685:Slc26a7
|
UTSW |
4 |
14,593,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Slc26a7
|
UTSW |
4 |
14,593,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Slc26a7
|
UTSW |
4 |
14,516,159 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6958:Slc26a7
|
UTSW |
4 |
14,506,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7000:Slc26a7
|
UTSW |
4 |
14,552,476 (GRCm39) |
missense |
probably benign |
|
|
R7090:Slc26a7
|
UTSW |
4 |
14,565,460 (GRCm39) |
nonsense |
probably null |
|
|
R7122:Slc26a7
|
UTSW |
4 |
14,533,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Slc26a7
|
UTSW |
4 |
14,546,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Slc26a7
|
UTSW |
4 |
14,621,415 (GRCm39) |
start gained |
probably benign |
|
|
R8262:Slc26a7
|
UTSW |
4 |
14,621,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8989:Slc26a7
|
UTSW |
4 |
14,533,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Slc26a7
|
UTSW |
4 |
14,506,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Slc26a7
|
UTSW |
4 |
14,593,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Slc26a7
|
UTSW |
4 |
14,506,630 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9287:Slc26a7
|
UTSW |
4 |
14,516,165 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9377:Slc26a7
|
UTSW |
4 |
14,516,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9563:Slc26a7
|
UTSW |
4 |
14,519,496 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9565:Slc26a7
|
UTSW |
4 |
14,519,496 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9609:Slc26a7
|
UTSW |
4 |
14,532,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Slc26a7
|
UTSW |
4 |
14,524,540 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9762:Slc26a7
|
UTSW |
4 |
14,546,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Slc26a7
|
UTSW |
4 |
14,522,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Slc26a7
|
UTSW |
4 |
14,590,416 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCACTAGCTACACTGTCAC -3'
(R):5'- GTAAACCACAGACGATTTGGAGC -3'
Sequencing Primer
(F):5'- GTGACATCCACTCTGCAGAAG -3'
(R):5'- GACTACTACAGGAGGGAATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation