Incidental Mutation 'R7781:Slc4a4'
ID 599226
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 045837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 89034345-89387512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89376791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1006 (E1006V)
Ref Sequence ENSEMBL: ENSMUSP00000108844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113218] [ENSMUST00000130041] [ENSMUST00000148750] [ENSMUST00000156238]
AlphaFold O88343
Predicted Effect possibly damaging
Transcript: ENSMUST00000113218
AA Change: E1006V

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: E1006V

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 damaging
Transcript: ENSMUST00000130041
AA Change: E971V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: E971V

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 possibly damaging
Transcript: ENSMUST00000148750
AA Change: E1015V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: E1015V

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 damaging
Transcript: ENSMUST00000156238
AA Change: E1015V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: E1015V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik G A 3: 19,682,706 (GRCm39) P23S unknown Het
Abcc6 C T 7: 45,655,030 (GRCm39) R487Q probably damaging Het
Abl1 A T 2: 31,680,709 (GRCm39) T334S probably damaging Het
Adam6b T C 12: 113,454,962 (GRCm39) F593S probably damaging Het
Alx1 A T 10: 102,845,053 (GRCm39) M326K probably damaging Het
Ankhd1 A T 18: 36,758,258 (GRCm39) D984V probably damaging Het
Asb15 A G 6: 24,562,644 (GRCm39) N202S probably benign Het
Ate1 A T 7: 130,121,157 (GRCm39) V12E probably damaging Het
Atl2 A T 17: 80,167,260 (GRCm39) Y254N probably damaging Het
Atp13a5 A G 16: 29,116,226 (GRCm39) M630T probably benign Het
Atp5po A T 16: 91,723,417 (GRCm39) I124N possibly damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bicdl1 T C 5: 115,799,546 (GRCm39) E181G probably damaging Het
Bnipl C A 3: 95,151,486 (GRCm39) W272L probably damaging Het
Catsperd A T 17: 56,971,072 (GRCm39) H712L probably benign Het
Cilp2 T C 8: 70,334,997 (GRCm39) D667G possibly damaging Het
Cntn4 A C 6: 106,500,575 (GRCm39) K351Q probably damaging Het
Coq7 A T 7: 118,125,111 (GRCm39) I171N probably damaging Het
Csf2rb T A 15: 78,228,771 (GRCm39) F371I probably benign Het
Cyp3a13 C T 5: 137,897,136 (GRCm39) V393M possibly damaging Het
Dennd2a A G 6: 39,470,000 (GRCm39) V564A probably damaging Het
Ear14 T C 14: 51,441,468 (GRCm39) L108P probably damaging Het
Egflam C A 15: 7,283,227 (GRCm39) V277F probably null Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Faap100 T C 11: 120,265,089 (GRCm39) M596V probably benign Het
Fbxw15 T A 9: 109,386,330 (GRCm39) T270S possibly damaging Het
Gabpb1 C T 2: 126,481,120 (GRCm39) C342Y possibly damaging Het
Gls A T 1: 52,251,492 (GRCm39) C288* probably null Het
Grm8 G T 6: 27,285,786 (GRCm39) D875E probably benign Het
Hdac4 C A 1: 91,903,387 (GRCm39) R514L probably benign Het
Hps4 T A 5: 112,518,388 (GRCm39) N460K probably benign Het
Inpp5d T C 1: 87,627,394 (GRCm39) F565S probably damaging Het
Kcnh5 C A 12: 75,023,455 (GRCm39) V538F probably damaging Het
Kcp T C 6: 29,497,764 (GRCm39) N499S probably damaging Het
Klk15 T C 7: 43,588,980 (GRCm39) L244S probably benign Het
Lamp3 A T 16: 19,518,440 (GRCm39) S266T possibly damaging Het
Lemd3 A G 10: 120,761,678 (GRCm39) F863L probably damaging Het
Mga T A 2: 119,747,838 (GRCm39) V663D probably damaging Het
Naa15 A G 3: 51,378,904 (GRCm39) probably null Het
Ndrg3 C A 2: 156,770,733 (GRCm39) G352* probably null Het
Nr2f6 G T 8: 71,828,595 (GRCm39) N233K possibly damaging Het
Or4a79 A G 2: 89,551,879 (GRCm39) F192S probably benign Het
Plxnb2 T A 15: 89,041,225 (GRCm39) M1774L possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl23a G A 11: 78,073,654 (GRCm39) R62W probably benign Het
Rubcnl A G 14: 75,269,530 (GRCm39) R63G probably damaging Het
Ryr1 T C 7: 28,767,055 (GRCm39) D2976G probably damaging Het
Siglec1 A G 2: 130,923,258 (GRCm39) Y496H probably damaging Het
Sipa1l2 A G 8: 126,218,566 (GRCm39) V257A possibly damaging Het
Slc24a4 T C 12: 102,201,112 (GRCm39) probably null Het
Slc4a1ap T C 5: 31,684,822 (GRCm39) S153P probably damaging Het
Svep1 T G 4: 58,069,251 (GRCm39) E2845A possibly damaging Het
Tlr1 T C 5: 65,084,079 (GRCm39) N166S possibly damaging Het
Tmem231 C T 8: 112,644,922 (GRCm39) probably null Het
Tsc2 C A 17: 24,827,089 (GRCm39) L873F possibly damaging Het
Unc13b T G 4: 43,259,546 (GRCm39) S1403A possibly damaging Het
Vmn1r7 A G 6: 57,001,553 (GRCm39) F236L probably benign Het
Vmn2r111 T C 17: 22,789,714 (GRCm39) S431G probably benign Het
Wdr7 A T 18: 63,910,860 (GRCm39) K751* probably null Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zcchc2 T C 1: 105,931,895 (GRCm39) Y366H probably damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp607a C T 7: 27,565,000 (GRCm39) R56C possibly damaging 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
R3856:Slc4a4 UTSW 5 89,380,698 (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
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 PCR Primer
(F):5'- ACCTGTAAGGATTTCTGCTGGG -3'
(R):5'- TTGGTCAGATGATCCTCTGGAGC -3'

Sequencing Primer
(F):5'- AAGGATTTCTGCTGGGGTTCTAGC -3'
(R):5'- AGATGATCCTCTGGAGCCTTCAG -3'
Posted On 2019-11-26