Incidental Mutation 'R3856:Slc4a4'
ID 474254
Institutional Source Beutler Lab
Gene Symbol Slc4a4
Ensembl Gene ENSMUSG00000060961
Gene Name solute carrier family 4 (anion exchanger), member 4
Synonyms NBC, NBC1
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3856 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 89034345-89387512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89380698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1015 (S1015R)
Ref Sequence ENSEMBL: ENSMUSP00000118413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113218] [ENSMUST00000130041] [ENSMUST00000148750] [ENSMUST00000156238]
AlphaFold O88343
Predicted Effect probably benign
Transcript: ENSMUST00000113218
AA Change: S1050R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: S1050R

DomainStartEndE-ValueType
low complexity region 40 59 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
Pfam:Band_3_cyto 137 379 1.1e-100 PFAM
low complexity region 408 423 N/A INTRINSIC
Pfam:HCO3_cotransp 426 947 3e-246 PFAM
transmembrane domain 953 975 N/A INTRINSIC
low complexity region 999 1015 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130041
AA Change: S1015R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: S1015R

DomainStartEndE-ValueType
Pfam:Band_3_cyto 93 344 1.5e-101 PFAM
low complexity region 373 388 N/A INTRINSIC
Pfam:HCO3_cotransp 391 912 2.7e-246 PFAM
transmembrane domain 918 940 N/A INTRINSIC
low complexity region 964 980 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148750
AA Change: S1059R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: S1059R

DomainStartEndE-ValueType
low complexity region 40 59 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
Pfam:Band_3_cyto 137 388 3.7e-101 PFAM
low complexity region 417 432 N/A INTRINSIC
Pfam:HCO3_cotransp 435 956 7.3e-246 PFAM
transmembrane domain 962 984 N/A INTRINSIC
low complexity region 1008 1024 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156238
SMART Domains Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961

DomainStartEndE-ValueType
low complexity region 40 59 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
Pfam:Band_3_cyto 137 388 4.6e-101 PFAM
low complexity region 417 432 N/A INTRINSIC
Pfam:HCO3_cotransp 436 956 4.1e-231 PFAM
transmembrane domain 962 984 N/A INTRINSIC
low complexity region 1008 1024 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign Het
Other mutations in Slc4a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Slc4a4 APN 5 89,327,545 (GRCm39) missense probably benign 0.01
IGL00976:Slc4a4 APN 5 89,102,657 (GRCm39) missense probably damaging 1.00
IGL01074:Slc4a4 APN 5 89,327,633 (GRCm39) missense probably damaging 1.00
IGL01120:Slc4a4 APN 5 89,280,238 (GRCm39) missense probably damaging 1.00
IGL01284:Slc4a4 APN 5 89,277,532 (GRCm39) missense probably benign 0.22
IGL01375:Slc4a4 APN 5 89,327,593 (GRCm39) missense probably damaging 1.00
IGL01399:Slc4a4 APN 5 89,376,794 (GRCm39) missense probably damaging 1.00
IGL01487:Slc4a4 APN 5 89,376,715 (GRCm39) missense probably benign 0.19
IGL02501:Slc4a4 APN 5 89,277,508 (GRCm39) missense probably benign 0.13
IGL03104:Slc4a4 APN 5 89,297,231 (GRCm39) missense probably damaging 1.00
IGL03157:Slc4a4 APN 5 89,304,372 (GRCm39) missense probably damaging 0.99
IGL03205:Slc4a4 APN 5 89,297,189 (GRCm39) missense probably benign 0.00
IGL03356:Slc4a4 APN 5 89,270,342 (GRCm39) missense probably benign 0.00
IGL03372:Slc4a4 APN 5 89,304,285 (GRCm39) missense probably damaging 1.00
IGL03382:Slc4a4 APN 5 89,376,695 (GRCm39) missense probably damaging 1.00
camera UTSW 5 89,280,366 (GRCm39) missense probably damaging 1.00
pixels UTSW 5 89,270,262 (GRCm39) missense probably damaging 0.99
Shutter UTSW 5 89,373,807 (GRCm39) missense probably damaging 1.00
Tetrapod UTSW 5 89,376,831 (GRCm39) missense probably damaging 1.00
Therapod UTSW 5 89,283,581 (GRCm39) missense probably damaging 1.00
tripod UTSW 5 89,297,192 (GRCm39) missense possibly damaging 0.52
BB008:Slc4a4 UTSW 5 89,318,640 (GRCm39) missense probably benign 0.00
BB018:Slc4a4 UTSW 5 89,318,640 (GRCm39) missense probably benign 0.00
PIT4515001:Slc4a4 UTSW 5 89,281,112 (GRCm39) missense probably damaging 1.00
PIT4544001:Slc4a4 UTSW 5 89,186,402 (GRCm39) missense probably damaging 1.00
R0007:Slc4a4 UTSW 5 89,186,437 (GRCm39) missense probably damaging 1.00
R0052:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0052:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0054:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0055:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0230:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0234:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0234:Slc4a4 UTSW 5 89,304,195 (GRCm39) missense possibly damaging 0.71
R0632:Slc4a4 UTSW 5 89,277,500 (GRCm39) missense probably damaging 1.00
R1199:Slc4a4 UTSW 5 89,363,653 (GRCm39) critical splice donor site probably null
R1597:Slc4a4 UTSW 5 89,283,587 (GRCm39) missense probably benign 0.01
R1783:Slc4a4 UTSW 5 89,280,273 (GRCm39) missense probably damaging 1.00
R1813:Slc4a4 UTSW 5 89,194,167 (GRCm39) missense probably damaging 0.98
R1896:Slc4a4 UTSW 5 89,194,167 (GRCm39) missense probably damaging 0.98
R2000:Slc4a4 UTSW 5 89,176,206 (GRCm39) missense probably damaging 1.00
R2139:Slc4a4 UTSW 5 89,194,123 (GRCm39) missense probably damaging 1.00
R2163:Slc4a4 UTSW 5 89,362,435 (GRCm39) missense probably damaging 1.00
R2513:Slc4a4 UTSW 5 89,304,257 (GRCm39) missense probably benign 0.00
R2873:Slc4a4 UTSW 5 89,283,623 (GRCm39) missense probably damaging 1.00
R2995:Slc4a4 UTSW 5 89,082,673 (GRCm39) missense probably damaging 1.00
R3054:Slc4a4 UTSW 5 89,373,807 (GRCm39) missense probably damaging 1.00
R3055:Slc4a4 UTSW 5 89,373,807 (GRCm39) missense probably damaging 1.00
R3055:Slc4a4 UTSW 5 89,280,366 (GRCm39) missense probably damaging 1.00
R3056:Slc4a4 UTSW 5 89,373,807 (GRCm39) missense probably damaging 1.00
R3617:Slc4a4 UTSW 5 89,382,663 (GRCm39) missense probably benign 0.00
R3863:Slc4a4 UTSW 5 89,283,507 (GRCm39) missense possibly damaging 0.95
R3896:Slc4a4 UTSW 5 89,345,625 (GRCm39) splice site probably benign
R4007:Slc4a4 UTSW 5 89,362,452 (GRCm39) missense probably damaging 1.00
R4616:Slc4a4 UTSW 5 89,186,420 (GRCm39) missense probably damaging 1.00
R4740:Slc4a4 UTSW 5 89,373,753 (GRCm39) missense probably damaging 1.00
R5009:Slc4a4 UTSW 5 89,297,157 (GRCm39) critical splice acceptor site probably null
R5119:Slc4a4 UTSW 5 89,102,721 (GRCm39) missense probably null 0.97
R5228:Slc4a4 UTSW 5 89,304,384 (GRCm39) missense possibly damaging 0.50
R5394:Slc4a4 UTSW 5 89,345,623 (GRCm39) critical splice donor site probably null
R5396:Slc4a4 UTSW 5 89,194,076 (GRCm39) missense probably benign 0.00
R5662:Slc4a4 UTSW 5 89,176,103 (GRCm39) missense probably damaging 0.96
R5664:Slc4a4 UTSW 5 89,176,103 (GRCm39) missense probably damaging 0.96
R6021:Slc4a4 UTSW 5 89,188,261 (GRCm39) intron probably benign
R6088:Slc4a4 UTSW 5 89,345,563 (GRCm39) missense probably benign 0.12
R6337:Slc4a4 UTSW 5 89,194,231 (GRCm39) missense probably benign 0.21
R6416:Slc4a4 UTSW 5 89,327,588 (GRCm39) missense probably benign 0.26
R6452:Slc4a4 UTSW 5 89,376,839 (GRCm39) missense probably benign 0.05
R6524:Slc4a4 UTSW 5 89,380,623 (GRCm39) missense probably benign 0.01
R6566:Slc4a4 UTSW 5 89,297,192 (GRCm39) missense possibly damaging 0.52
R6727:Slc4a4 UTSW 5 89,318,624 (GRCm39) missense probably benign 0.00
R6844:Slc4a4 UTSW 5 89,376,831 (GRCm39) missense probably damaging 1.00
R6970:Slc4a4 UTSW 5 89,327,690 (GRCm39) missense probably damaging 0.98
R7021:Slc4a4 UTSW 5 89,188,205 (GRCm39) splice site probably null
R7180:Slc4a4 UTSW 5 89,194,095 (GRCm39) missense probably damaging 0.97
R7197:Slc4a4 UTSW 5 89,082,433 (GRCm39) intron probably benign
R7246:Slc4a4 UTSW 5 89,270,262 (GRCm39) missense probably damaging 0.99
R7309:Slc4a4 UTSW 5 89,318,610 (GRCm39) missense probably benign
R7412:Slc4a4 UTSW 5 89,362,506 (GRCm39) splice site probably null
R7492:Slc4a4 UTSW 5 89,277,509 (GRCm39) missense possibly damaging 0.92
R7561:Slc4a4 UTSW 5 89,347,556 (GRCm39) missense probably damaging 1.00
R7577:Slc4a4 UTSW 5 89,373,726 (GRCm39) missense probably damaging 0.97
R7609:Slc4a4 UTSW 5 89,283,545 (GRCm39) missense probably damaging 1.00
R7781:Slc4a4 UTSW 5 89,376,791 (GRCm39) missense possibly damaging 0.78
R7931:Slc4a4 UTSW 5 89,318,640 (GRCm39) missense probably benign 0.00
R7950:Slc4a4 UTSW 5 89,206,137 (GRCm39) splice site probably null
R8078:Slc4a4 UTSW 5 89,327,566 (GRCm39) missense probably benign 0.00
R8313:Slc4a4 UTSW 5 89,194,122 (GRCm39) missense possibly damaging 0.84
R8332:Slc4a4 UTSW 5 89,327,680 (GRCm39) missense probably benign 0.11
R8534:Slc4a4 UTSW 5 89,283,581 (GRCm39) missense probably damaging 1.00
R8735:Slc4a4 UTSW 5 89,280,301 (GRCm39) missense probably damaging 1.00
R8786:Slc4a4 UTSW 5 89,232,549 (GRCm39) missense probably benign 0.07
R8968:Slc4a4 UTSW 5 89,232,512 (GRCm39) missense probably benign
R9014:Slc4a4 UTSW 5 89,280,245 (GRCm39) missense probably damaging 1.00
R9031:Slc4a4 UTSW 5 89,205,568 (GRCm39) intron probably benign
R9195:Slc4a4 UTSW 5 89,281,055 (GRCm39) missense possibly damaging 0.82
R9236:Slc4a4 UTSW 5 89,194,158 (GRCm39) nonsense probably null
R9261:Slc4a4 UTSW 5 89,347,568 (GRCm39) missense probably damaging 1.00
R9325:Slc4a4 UTSW 5 89,376,756 (GRCm39) missense probably damaging 1.00
R9401:Slc4a4 UTSW 5 89,327,525 (GRCm39) missense probably damaging 1.00
R9457:Slc4a4 UTSW 5 89,362,432 (GRCm39) missense probably damaging 1.00
R9462:Slc4a4 UTSW 5 89,194,131 (GRCm39) missense probably damaging 1.00
R9681:Slc4a4 UTSW 5 89,102,723 (GRCm39) nonsense probably null
R9709:Slc4a4 UTSW 5 89,188,205 (GRCm39) splice site probably null
Z1177:Slc4a4 UTSW 5 89,280,318 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14