Incidental Mutation 'R4616:Slc4a4'
ID 351036
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 041827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 89034345-89387512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89186420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 167 (K167R)
Ref Sequence ENSEMBL: ENSMUSP00000121744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113216] [ENSMUST00000113218] [ENSMUST00000130041] [ENSMUST00000134303] [ENSMUST00000148750] [ENSMUST00000156238]
AlphaFold O88343
Predicted Effect probably damaging
Transcript: ENSMUST00000113216
AA Change: K123R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108842
Gene: ENSMUSG00000060961
AA Change: K123R

DomainStartEndE-ValueType
Pfam:Band_3_cyto 93 149 4.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113218
AA Change: K167R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: K167R

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: K123R

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: K123R

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 damaging
Transcript: ENSMUST00000134303
AA Change: K123R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119976
Gene: ENSMUSG00000060961
AA Change: K123R

DomainStartEndE-ValueType
Pfam:Band_3_cyto 93 233 1.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148750
AA Change: K167R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: K167R

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: K167R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: K167R

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
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P 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
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 PCR Primer
(F):5'- CATTATGAAAGTGCTGGTCAGGG -3'
(R):5'- TTTCATGACACAAGCCTCTAAGAAC -3'

Sequencing Primer
(F):5'- TCAGAGCTGCTTTCAGGGAAG -3'
(R):5'- GCCTCTAAGAACCTGTGTTTTAGAG -3'
Posted On 2015-10-08