Incidental Mutation 'R7405:Slc9a4'
ID 574478
Institutional Source Beutler Lab
Gene Symbol Slc9a4
Ensembl Gene ENSMUSG00000026065
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 4
Synonyms NHE4, D730009J23Rik
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 40619241-40669885 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40640086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 293 (R293C)
Ref Sequence ENSEMBL: ENSMUSP00000027233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027233]
AlphaFold Q8BUE1
Predicted Effect probably damaging
Transcript: ENSMUST00000027233
AA Change: R293C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: R293C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 73 477 1.6e-90 PFAM
PDB:2E30|B 481 516 9e-8 PDB
Pfam:NEXCaM_BD 566 675 8.1e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown Het
Other mutations in Slc9a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Slc9a4 APN 1 40,668,565 (GRCm39) missense probably benign 0.01
IGL01802:Slc9a4 APN 1 40,646,958 (GRCm39) missense probably damaging 1.00
IGL01909:Slc9a4 APN 1 40,651,451 (GRCm39) splice site probably benign
IGL02137:Slc9a4 APN 1 40,640,059 (GRCm39) missense possibly damaging 0.79
IGL02399:Slc9a4 APN 1 40,639,942 (GRCm39) missense probably benign 0.00
IGL02685:Slc9a4 APN 1 40,668,742 (GRCm39) missense probably benign
IGL02874:Slc9a4 APN 1 40,623,198 (GRCm39) missense probably benign 0.02
IGL02892:Slc9a4 APN 1 40,623,204 (GRCm39) missense possibly damaging 0.64
IGL03028:Slc9a4 APN 1 40,649,537 (GRCm39) missense probably benign 0.06
IGL03083:Slc9a4 APN 1 40,668,562 (GRCm39) missense probably benign 0.00
IGL03124:Slc9a4 APN 1 40,619,895 (GRCm39) missense probably damaging 0.99
IGL03144:Slc9a4 APN 1 40,651,362 (GRCm39) missense probably damaging 1.00
IGL03286:Slc9a4 APN 1 40,619,928 (GRCm39) missense probably null 0.99
R0601:Slc9a4 UTSW 1 40,642,230 (GRCm39) missense probably damaging 1.00
R1118:Slc9a4 UTSW 1 40,623,490 (GRCm39) splice site probably benign
R1583:Slc9a4 UTSW 1 40,640,122 (GRCm39) missense probably benign 0.01
R1752:Slc9a4 UTSW 1 40,668,421 (GRCm39) missense probably benign 0.00
R1776:Slc9a4 UTSW 1 40,668,447 (GRCm39) missense probably benign 0.00
R1785:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R1786:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2131:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2132:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2133:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R3785:Slc9a4 UTSW 1 40,623,130 (GRCm39) missense probably damaging 1.00
R4223:Slc9a4 UTSW 1 40,658,286 (GRCm39) missense probably damaging 0.98
R4567:Slc9a4 UTSW 1 40,619,737 (GRCm39) missense probably damaging 0.99
R4605:Slc9a4 UTSW 1 40,640,195 (GRCm39) splice site probably null
R4641:Slc9a4 UTSW 1 40,646,285 (GRCm39) missense probably damaging 1.00
R5407:Slc9a4 UTSW 1 40,646,954 (GRCm39) missense probably benign 0.41
R5823:Slc9a4 UTSW 1 40,658,277 (GRCm39) missense probably damaging 0.97
R5877:Slc9a4 UTSW 1 40,651,423 (GRCm39) missense probably benign
R6389:Slc9a4 UTSW 1 40,619,844 (GRCm39) missense probably benign 0.00
R6430:Slc9a4 UTSW 1 40,640,014 (GRCm39) nonsense probably null
R6603:Slc9a4 UTSW 1 40,662,664 (GRCm39) missense probably benign 0.43
R6950:Slc9a4 UTSW 1 40,642,045 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,662,559 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,619,799 (GRCm39) missense probably benign 0.00
R7230:Slc9a4 UTSW 1 40,639,931 (GRCm39) missense probably damaging 1.00
R7313:Slc9a4 UTSW 1 40,668,663 (GRCm39) missense probably benign 0.28
R7384:Slc9a4 UTSW 1 40,651,411 (GRCm39) missense probably benign 0.10
R7770:Slc9a4 UTSW 1 40,640,123 (GRCm39) missense probably damaging 0.98
R7784:Slc9a4 UTSW 1 40,639,936 (GRCm39) missense probably damaging 1.00
R8313:Slc9a4 UTSW 1 40,619,520 (GRCm39) start gained probably benign
R8724:Slc9a4 UTSW 1 40,623,301 (GRCm39) missense probably damaging 0.98
R8871:Slc9a4 UTSW 1 40,642,015 (GRCm39) missense probably damaging 1.00
R8926:Slc9a4 UTSW 1 40,619,928 (GRCm39) missense possibly damaging 0.71
R9244:Slc9a4 UTSW 1 40,658,249 (GRCm39) missense probably damaging 0.99
R9455:Slc9a4 UTSW 1 40,668,612 (GRCm39) missense probably benign 0.05
X0060:Slc9a4 UTSW 1 40,658,191 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CCGTTGACTCGTGTACTCTAATTG -3'
(R):5'- GCTTTTCCCAGATACCCAAGC -3'

Sequencing Primer
(F):5'- GTGAAGTCAAGAATCCATGTGTAAC -3'
(R):5'- GATACCCAAGCCAGCTAGCATC -3'
Posted On 2019-09-13