Incidental Mutation 'R9681:Slc4a4'
ID 728544
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 89034345-89387512 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89102723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 54 (K54*)
Ref Sequence ENSEMBL: ENSMUSP00000108844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113218] [ENSMUST00000144713] [ENSMUST00000148750] [ENSMUST00000156238]
AlphaFold O88343
Predicted Effect probably null
Transcript: ENSMUST00000113218
AA Change: K54*
SMART Domains Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: K54*

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 null
Transcript: ENSMUST00000144713
AA Change: K59*
SMART Domains Protein: ENSMUSP00000122975
Gene: ENSMUSG00000060961
AA Change: K59*

DomainStartEndE-ValueType
low complexity region 45 64 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000148750
AA Change: K54*
SMART Domains Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: K54*

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 null
Transcript: ENSMUST00000156238
AA Change: K54*
SMART Domains Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: K54*

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik A G 6: 72,324,450 (GRCm39) D20G probably damaging Het
Acbd3 T A 1: 180,566,082 (GRCm39) Y258* probably null Het
Adamts1 T A 16: 85,599,498 (GRCm39) H34L Het
Ankmy1 G T 1: 92,813,882 (GRCm39) N432K possibly damaging Het
Ano1 A G 7: 144,143,893 (GRCm39) M966T possibly damaging Het
Ark2n A T 18: 77,722,989 (GRCm39) V349D possibly damaging Het
C2cd3 A G 7: 100,023,662 (GRCm39) T83A probably benign Het
Cdk1 T A 10: 69,178,449 (GRCm39) D137V possibly damaging Het
Cfap299 T A 5: 98,477,214 (GRCm39) M1K probably null Het
Chia1 A G 3: 106,037,996 (GRCm39) Y326C probably damaging Het
Ciz1 A G 2: 32,260,974 (GRCm39) D295G possibly damaging Het
Clrn1 C T 3: 58,792,251 (GRCm39) V71I probably benign Het
Cr1l T C 1: 194,800,149 (GRCm39) D175G probably damaging Het
Crem A T 18: 3,268,067 (GRCm39) V87E probably damaging Het
Cyp2b19 T A 7: 26,466,328 (GRCm39) L377Q probably benign Het
Ddx42 T A 11: 106,125,679 (GRCm39) V243D probably damaging Het
Dnah14 T C 1: 181,562,414 (GRCm39) V2658A possibly damaging Het
Dnah3 T G 7: 119,677,611 (GRCm39) M437L probably benign Het
Flrt2 T A 12: 95,745,425 (GRCm39) probably benign Het
Gm10142 T A 10: 77,551,880 (GRCm39) C80* probably null Het
Gpr158 A G 2: 21,831,315 (GRCm39) E805G probably damaging Het
Grwd1 T C 7: 45,479,473 (GRCm39) E134G probably benign Het
Hdac11 T A 6: 91,150,068 (GRCm39) V289D probably benign Het
Hsdl1 T C 8: 120,293,081 (GRCm39) E118G possibly damaging Het
Igdcc4 T A 9: 65,041,858 (GRCm39) L1095Q possibly damaging Het
Ildr1 T A 16: 36,528,749 (GRCm39) C65S probably damaging Het
Itgal T C 7: 126,929,422 (GRCm39) F1113S probably damaging Het
Itsn2 G T 12: 4,683,499 (GRCm39) V341F unknown Het
Jak1 G A 4: 101,019,085 (GRCm39) R723C probably damaging Het
Limch1 A G 5: 67,126,422 (GRCm39) T8A probably damaging Het
Limd1 T A 9: 123,345,903 (GRCm39) C561S possibly damaging Het
Map3k19 A G 1: 127,750,097 (GRCm39) F1085L possibly damaging Het
Mcm7 A T 5: 138,164,220 (GRCm39) Y600* probably null Het
Mecom A T 3: 30,033,803 (GRCm39) D300E probably benign Het
Mfap4 T A 11: 61,376,925 (GRCm39) Y51* probably null Het
Mug1 T A 6: 121,833,254 (GRCm39) N286K probably benign Het
Myl2 A T 5: 122,240,783 (GRCm39) R40* probably null Het
Nom1 A G 5: 29,642,623 (GRCm39) S375G probably damaging Het
Nrcam C A 12: 44,598,133 (GRCm39) P368Q probably null Het
Oca2 G C 7: 55,943,623 (GRCm39) Q265H probably null Het
Or52a20 T A 7: 103,366,475 (GRCm39) F225I probably damaging Het
Or52n2c T C 7: 104,574,075 (GRCm39) T299A probably damaging Het
Or5k8 T A 16: 58,644,176 (GRCm39) N299Y possibly damaging Het
Or6c88 A T 10: 129,406,664 (GRCm39) T47S probably damaging Het
Or7a41 G A 10: 78,871,577 (GRCm39) D316N probably benign Het
Palmd T C 3: 116,717,120 (GRCm39) E459G probably benign Het
Pde1a G T 2: 79,695,465 (GRCm39) A494D probably benign Het
Pds5a T C 5: 65,808,587 (GRCm39) Y428C probably damaging Het
Pgm2 T C 5: 64,254,391 (GRCm39) F59L probably benign Het
Plekhm1 A G 11: 103,258,950 (GRCm39) V980A possibly damaging Het
Polb T C 8: 23,118,346 (GRCm39) D318G possibly damaging Het
Rasgef1c T A 11: 49,861,040 (GRCm39) M335K probably damaging Het
Rasgrp4 T C 7: 28,849,687 (GRCm39) S651P probably benign Het
Robo3 A C 9: 37,334,558 (GRCm39) I624S possibly damaging Het
Robo3 T A 9: 37,339,087 (GRCm39) H290L probably benign Het
Rps6kl1 T C 12: 85,183,599 (GRCm39) H482R probably damaging Het
Slc26a9 A T 1: 131,681,691 (GRCm39) E168V probably benign Het
Slc3a2 T C 19: 8,691,226 (GRCm39) probably benign Het
Slitrk6 A G 14: 110,988,258 (GRCm39) L483P probably damaging Het
Svep1 T A 4: 58,084,959 (GRCm39) N1793I probably damaging Het
Ttn T C 2: 76,612,723 (GRCm39) I17119V possibly damaging Het
Tulp4 T C 17: 6,274,500 (GRCm39) L617P possibly damaging Het
Uhrf1 A G 17: 56,625,083 (GRCm39) N542S possibly damaging Het
Vmn1r151 T A 7: 22,198,368 (GRCm39) T246S probably damaging Het
Vmn1r57 T A 7: 5,224,069 (GRCm39) V198E probably damaging Het
Vmn2r99 A T 17: 19,598,889 (GRCm39) Q191L probably damaging Het
Vrk3 C T 7: 44,403,356 (GRCm39) T39M possibly damaging Het
Zc3h3 C A 15: 75,681,470 (GRCm39) R537L probably damaging Het
Zfp64 A T 2: 168,793,680 (GRCm39) V22E probably damaging Het
Zwint T C 10: 72,493,112 (GRCm39) L218P probably 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
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
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'- ATGTCACACTCACAGACTTCTC -3'
(R):5'- TCAGCACAGGAAAAGCATATGC -3'

Sequencing Primer
(F):5'- CAGACTTCTCTGGCCTGTGG -3'
(R):5'- CATATGCGTGGACATGACCCATTAG -3'
Posted On 2022-10-06