Incidental Mutation 'R2865:Slc12a6'
| ID |
253142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a6
|
| Ensembl Gene |
ENSMUSG00000027130 |
| Gene Name |
solute carrier family 12, member 6 |
| Synonyms |
KCC3, gaxp |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
112096659-112193508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112177662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 594
(V594I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028549]
[ENSMUST00000053666]
[ENSMUST00000110987]
[ENSMUST00000110991]
[ENSMUST00000141047]
|
| AlphaFold |
Q924N4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028549
AA Change: V609I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: V609I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1qqea_
|
114 |
171 |
8e-3 |
SMART |
|
Pfam:AA_permease
|
190 |
384 |
4.1e-25 |
PFAM |
|
Pfam:AA_permease
|
453 |
761 |
2.3e-43 |
PFAM |
|
Pfam:SLC12
|
773 |
897 |
7.1e-20 |
PFAM |
|
Pfam:SLC12
|
892 |
1150 |
3.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053666
AA Change: V558I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: V558I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease
|
139 |
333 |
2.3e-25 |
PFAM |
|
Pfam:AA_permease_2
|
385 |
668 |
1.5e-19 |
PFAM |
|
Pfam:AA_permease
|
391 |
710 |
4.5e-41 |
PFAM |
|
low complexity region
|
828 |
842 |
N/A |
INTRINSIC |
|
Pfam:KCl_Cotrans_1
|
967 |
996 |
2.2e-23 |
PFAM |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110987
AA Change: V594I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130
AA Change: V594I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1qqea_
|
99 |
156 |
4e-3 |
SMART |
|
Pfam:AA_permease
|
175 |
369 |
3.9e-25 |
PFAM |
|
Pfam:AA_permease_2
|
421 |
704 |
3.2e-19 |
PFAM |
|
Pfam:AA_permease
|
426 |
746 |
5.8e-41 |
PFAM |
|
low complexity region
|
864 |
878 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110991
AA Change: V609I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: V609I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1qqea_
|
114 |
171 |
7e-3 |
SMART |
|
Pfam:AA_permease
|
190 |
384 |
4.2e-25 |
PFAM |
|
Pfam:AA_permease_2
|
436 |
719 |
2.9e-19 |
PFAM |
|
Pfam:AA_permease
|
442 |
761 |
8.2e-41 |
PFAM |
|
low complexity region
|
879 |
893 |
N/A |
INTRINSIC |
|
Pfam:KCl_Cotrans_1
|
1018 |
1047 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141047
AA Change: V594I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: V594I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1qqea_
|
99 |
156 |
8e-3 |
SMART |
|
Pfam:AA_permease
|
175 |
369 |
6.6e-25 |
PFAM |
|
Pfam:AA_permease
|
438 |
746 |
3.6e-43 |
PFAM |
|
Pfam:SLC12
|
758 |
884 |
6.8e-20 |
PFAM |
|
Pfam:SLC12
|
877 |
1033 |
5.9e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.2974 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Slc12a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01488:Slc12a6
|
APN |
2 |
112,183,409 (GRCm39) |
splice site |
probably null |
|
|
IGL02573:Slc12a6
|
APN |
2 |
112,188,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
burgess
|
UTSW |
2 |
112,177,662 (GRCm39) |
missense |
probably benign |
0.09 |
|
petrified_forest
|
UTSW |
2 |
112,177,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Prebiotic
|
UTSW |
2 |
112,183,280 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0548:Slc12a6
|
UTSW |
2 |
112,166,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1495:Slc12a6
|
UTSW |
2 |
112,184,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1726:Slc12a6
|
UTSW |
2 |
112,177,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Slc12a6
|
UTSW |
2 |
112,166,272 (GRCm39) |
splice site |
probably null |
|
|
R1958:Slc12a6
|
UTSW |
2 |
112,185,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2112:Slc12a6
|
UTSW |
2 |
112,186,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Slc12a6
|
UTSW |
2 |
112,097,375 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4412:Slc12a6
|
UTSW |
2 |
112,166,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4655:Slc12a6
|
UTSW |
2 |
112,188,111 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4669:Slc12a6
|
UTSW |
2 |
112,184,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Slc12a6
|
UTSW |
2 |
112,183,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Slc12a6
|
UTSW |
2 |
112,188,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5016:Slc12a6
|
UTSW |
2 |
112,186,972 (GRCm39) |
intron |
probably benign |
|
|
R5372:Slc12a6
|
UTSW |
2 |
112,177,705 (GRCm39) |
nonsense |
probably null |
|
|
R5405:Slc12a6
|
UTSW |
2 |
112,169,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Slc12a6
|
UTSW |
2 |
112,115,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5836:Slc12a6
|
UTSW |
2 |
112,172,343 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6280:Slc12a6
|
UTSW |
2 |
112,167,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Slc12a6
|
UTSW |
2 |
112,166,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Slc12a6
|
UTSW |
2 |
112,182,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Slc12a6
|
UTSW |
2 |
112,183,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Slc12a6
|
UTSW |
2 |
112,168,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6895:Slc12a6
|
UTSW |
2 |
112,185,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Slc12a6
|
UTSW |
2 |
112,183,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7188:Slc12a6
|
UTSW |
2 |
112,164,760 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7395:Slc12a6
|
UTSW |
2 |
112,182,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Slc12a6
|
UTSW |
2 |
112,172,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Slc12a6
|
UTSW |
2 |
112,166,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8016:Slc12a6
|
UTSW |
2 |
112,186,899 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8122:Slc12a6
|
UTSW |
2 |
112,097,167 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8192:Slc12a6
|
UTSW |
2 |
112,181,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Slc12a6
|
UTSW |
2 |
112,169,870 (GRCm39) |
splice site |
probably null |
|
|
R8534:Slc12a6
|
UTSW |
2 |
112,174,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Slc12a6
|
UTSW |
2 |
112,174,585 (GRCm39) |
splice site |
probably benign |
|
|
R9281:Slc12a6
|
UTSW |
2 |
112,164,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9418:Slc12a6
|
UTSW |
2 |
112,174,555 (GRCm39) |
missense |
|
|
|
R9448:Slc12a6
|
UTSW |
2 |
112,179,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9460:Slc12a6
|
UTSW |
2 |
112,183,280 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9694:Slc12a6
|
UTSW |
2 |
112,174,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9712:Slc12a6
|
UTSW |
2 |
112,186,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATACCTTTCCTTAGGGTGAGTG -3'
(R):5'- AAGCCTATGTTTGGTTACCTCTG -3'
Sequencing Primer
(F):5'- ACCTTTTTCAGCTTTAGAATTGGGAG -3'
(R):5'- TGCCATCATCACTATTTTTAGATGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation