Incidental Mutation 'R9623:Clca3a1'
ID 724933
Institutional Source Beutler Lab
Gene Symbol Clca3a1
Ensembl Gene ENSMUSG00000056025
Gene Name chloride channel accessory 3A1
Synonyms Clca1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9623 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 144435438-144466738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144719698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 424 (D424A)
Ref Sequence ENSEMBL: ENSMUSP00000029919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029919]
AlphaFold Q9QX15
Predicted Effect probably benign
Transcript: ENSMUST00000029919
AA Change: D424A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: D424A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
VWA 305 478 5.05e-19 SMART
Blast:FN3 753 852 2e-28 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,181,975 (GRCm39) Y408F probably benign Het
Adamts9 G T 6: 92,857,661 (GRCm39) P876T probably benign Het
Afap1l2 T A 19: 56,906,462 (GRCm39) D479V probably damaging Het
Aire T C 10: 77,873,809 (GRCm39) E300G probably damaging Het
Ampd3 A G 7: 110,402,307 (GRCm39) E428G probably damaging Het
Apaf1 A T 10: 90,913,463 (GRCm39) Y153* probably null Het
Arhgap10 T C 8: 77,985,786 (GRCm39) T694A probably benign Het
Arhgef39 A G 4: 43,496,819 (GRCm39) probably null Het
Arhgef5 T C 6: 43,251,736 (GRCm39) V829A possibly damaging Het
Arrdc4 A G 7: 68,390,741 (GRCm39) M333T Het
Boc G T 16: 44,322,018 (GRCm39) R215S Het
Capn2 G A 1: 182,344,795 (GRCm39) A42V probably benign Het
Ccdc136 T A 6: 29,405,939 (GRCm39) M95K probably benign Het
Ccdc183 A T 2: 25,499,520 (GRCm39) Y438N probably benign Het
Ccnf C A 17: 24,468,367 (GRCm39) R10M probably damaging Het
Cd19 A G 7: 126,011,284 (GRCm39) F300S probably damaging Het
Cdkl3 G T 11: 51,895,816 (GRCm39) C21F probably damaging Het
Celf2 C T 2: 6,620,522 (GRCm39) R183Q probably damaging Het
Clec3a A G 8: 115,144,887 (GRCm39) D21G probably benign Het
Clec4e T C 6: 123,263,306 (GRCm39) N78S probably benign Het
Clpb A T 7: 101,313,399 (GRCm39) S128C possibly damaging Het
Cntnap5a T A 1: 116,369,985 (GRCm39) Y867* probably null Het
Dgkg G C 16: 22,385,194 (GRCm39) N437K Het
Dnhd1 A G 7: 105,335,773 (GRCm39) E1139G probably damaging Het
Dnhd1 G A 7: 105,344,134 (GRCm39) R1826H probably damaging Het
Etl4 A G 2: 20,811,052 (GRCm39) H1413R Het
Fibp T A 19: 5,513,850 (GRCm39) V271D possibly damaging Het
Gabra4 G T 5: 71,791,023 (GRCm39) T273K probably damaging Het
Gan G A 8: 117,914,219 (GRCm39) D206N probably damaging Het
Gstz1 A T 12: 87,206,923 (GRCm39) I106F probably damaging Het
Hivep2 T G 10: 14,006,546 (GRCm39) L1048R probably damaging Het
Htr6 A T 4: 138,801,750 (GRCm39) M108K probably damaging Het
Hycc1 A C 5: 24,170,255 (GRCm39) S365A probably benign Het
Itgad A G 7: 127,803,723 (GRCm39) E1134G probably damaging Het
Lrp1b C T 2: 41,366,648 (GRCm39) G657S Het
Lrp2 T C 2: 69,307,423 (GRCm39) I2879V probably benign Het
Lyst G T 13: 13,852,587 (GRCm39) V2196L probably benign Het
Mettl5 T A 2: 69,711,717 (GRCm39) I50F possibly damaging Het
Mmadhc A G 2: 50,186,341 (GRCm39) probably benign Het
Msantd1 G A 5: 35,075,076 (GRCm39) W46* probably null Het
Mto1 T C 9: 78,364,712 (GRCm39) I317T probably damaging Het
Myef2 T G 2: 124,957,377 (GRCm39) D126A probably damaging Het
Net1 A G 13: 3,937,569 (GRCm39) probably null Het
Nnmt A T 9: 48,503,660 (GRCm39) M122K probably benign Het
Nos1 A G 5: 118,087,849 (GRCm39) K1371E probably benign Het
Nrcam G C 12: 44,636,931 (GRCm39) W1121C probably damaging Het
Nt5c2 A G 19: 46,877,409 (GRCm39) S511P Het
Or10w1 C A 19: 13,632,414 (GRCm39) A207E probably damaging Het
Or1j17 G T 2: 36,578,778 (GRCm39) V255F probably benign Het
Or2k2 T C 4: 58,785,585 (GRCm39) I46V possibly damaging Het
Or4a73 A G 2: 89,421,261 (GRCm39) F66S probably benign Het
P2rx7 A G 5: 122,790,860 (GRCm39) K66E probably damaging Het
Paqr4 A G 17: 23,956,656 (GRCm39) W236R probably damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Pcbp2 T C 15: 102,392,628 (GRCm39) Y178H probably damaging Het
Pidd1 G A 7: 141,021,678 (GRCm39) P261S probably damaging Het
Pik3r6 T C 11: 68,442,159 (GRCm39) V705A possibly damaging Het
Pla2g15 G T 8: 106,887,275 (GRCm39) V156F possibly damaging Het
Prpf6 G A 2: 181,289,137 (GRCm39) V609M possibly damaging Het
Resf1 A G 6: 149,226,965 (GRCm39) N4D possibly damaging Het
Rprd2 A G 3: 95,679,505 (GRCm39) V491A probably benign Het
Rtp3 T A 9: 110,818,600 (GRCm39) H27L probably damaging Het
Sema5b G A 16: 35,443,121 (GRCm39) R42Q possibly damaging Het
Serpina3f A G 12: 104,183,743 (GRCm39) K202E probably damaging Het
Slc25a33 T G 4: 149,833,767 (GRCm39) M168L probably benign Het
Slc7a8 A G 14: 54,964,341 (GRCm39) C371R probably damaging Het
Smyd1 T C 6: 71,192,808 (GRCm39) N467S probably benign Het
Sptbn4 A G 7: 27,107,807 (GRCm39) W872R probably damaging Het
Syne1 A T 10: 5,152,009 (GRCm39) I5766N probably damaging Het
Syne2 A G 12: 75,986,760 (GRCm39) S1699G probably benign Het
Synpo2 T C 3: 122,908,047 (GRCm39) D423G possibly damaging Het
Tcf19 A T 17: 35,825,792 (GRCm39) F122I probably damaging Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Trappc8 T A 18: 20,983,975 (GRCm39) H681L possibly damaging Het
Trim36 A G 18: 46,308,623 (GRCm39) F413S probably benign Het
Tsks A G 7: 44,605,931 (GRCm39) T466A possibly damaging Het
Ubr1 T C 2: 120,764,820 (GRCm39) I545V probably benign Het
Ubr4 A G 4: 139,159,024 (GRCm39) E1170G probably benign Het
Usp29 A G 7: 6,964,396 (GRCm39) R80G possibly damaging Het
Utrn C T 10: 12,282,225 (GRCm39) R3258H probably damaging Het
Vmn1r13 T G 6: 57,187,549 (GRCm39) V236G probably benign Het
Vmn1r33 T A 6: 66,589,002 (GRCm39) D184V probably damaging Het
Vmn2r87 T C 10: 130,315,794 (GRCm39) N91D probably damaging Het
Wrn A G 8: 33,774,644 (GRCm39) probably null Het
Zan G A 5: 137,461,636 (GRCm39) P1181L unknown Het
Zbtb47 C A 9: 121,591,990 (GRCm39) Y103* probably null Het
Zfc3h1 C A 10: 115,259,362 (GRCm39) L1645I possibly damaging Het
Zfhx2 G T 14: 55,302,191 (GRCm39) P1931Q probably damaging Het
Zfp352 A G 4: 90,113,128 (GRCm39) K423E probably benign Het
Zfp574 T A 7: 24,780,515 (GRCm39) H512Q Het
Zfp7 G A 15: 76,774,531 (GRCm39) R191H probably benign Het
Zfp771 A T 7: 126,844,301 (GRCm39) K46* probably null Het
Zkscan8 T C 13: 21,704,763 (GRCm39) E392G probably damaging Het
Other mutations in Clca3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00664:Clca3a1 APN 3 144,733,660 (GRCm39) missense probably benign 0.01
IGL00768:Clca3a1 APN 3 144,461,012 (GRCm39) missense probably damaging 0.96
IGL00862:Clca3a1 APN 3 144,730,332 (GRCm39) missense possibly damaging 0.89
IGL00895:Clca3a1 APN 3 144,730,357 (GRCm39) missense probably damaging 1.00
IGL00969:Clca3a1 APN 3 144,714,719 (GRCm39) missense possibly damaging 0.80
IGL01331:Clca3a1 APN 3 144,453,273 (GRCm39) missense probably damaging 1.00
IGL01398:Clca3a1 APN 3 144,722,512 (GRCm39) missense possibly damaging 0.81
IGL01447:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01455:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01457:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01458:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01462:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01473:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01488:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01490:Clca3a1 APN 3 144,713,539 (GRCm39) missense probably benign 0.00
IGL01632:Clca3a1 APN 3 144,733,202 (GRCm39) missense probably damaging 1.00
IGL01895:Clca3a1 APN 3 144,453,333 (GRCm39) nonsense probably null
IGL01896:Clca3a1 APN 3 144,721,438 (GRCm39) missense possibly damaging 0.79
IGL01940:Clca3a1 APN 3 144,452,737 (GRCm39) missense probably benign 0.25
IGL02162:Clca3a1 APN 3 144,460,564 (GRCm39) missense probably damaging 0.98
IGL02200:Clca3a1 APN 3 144,457,690 (GRCm39) splice site probably benign
IGL02411:Clca3a1 APN 3 144,733,763 (GRCm39) missense possibly damaging 0.89
IGL03093:Clca3a1 APN 3 144,453,262 (GRCm39) missense probably damaging 0.99
IGL03156:Clca3a1 APN 3 144,719,672 (GRCm39) missense probably damaging 1.00
Lucha UTSW 3 144,455,450 (GRCm39) missense probably damaging 1.00
R0256:Clca3a1 UTSW 3 144,436,640 (GRCm39) missense probably damaging 0.98
R0472:Clca3a1 UTSW 3 144,733,106 (GRCm39) missense probably damaging 1.00
R0513:Clca3a1 UTSW 3 144,466,323 (GRCm39) critical splice donor site probably null
R0543:Clca3a1 UTSW 3 144,454,155 (GRCm39) splice site probably benign
R0571:Clca3a1 UTSW 3 144,713,550 (GRCm39) missense probably damaging 1.00
R0585:Clca3a1 UTSW 3 144,738,386 (GRCm39) missense probably benign 0.16
R0586:Clca3a1 UTSW 3 144,738,350 (GRCm39) missense probably benign 0.45
R0791:Clca3a1 UTSW 3 144,710,615 (GRCm39) missense probably benign 0.01
R1187:Clca3a1 UTSW 3 144,715,504 (GRCm39) missense probably benign 0.30
R1522:Clca3a1 UTSW 3 144,460,932 (GRCm39) missense probably benign 0.01
R1713:Clca3a1 UTSW 3 144,730,307 (GRCm39) missense probably benign 0.00
R1739:Clca3a1 UTSW 3 144,713,539 (GRCm39) missense probably benign 0.00
R1744:Clca3a1 UTSW 3 144,452,596 (GRCm39) missense probably damaging 0.99
R1873:Clca3a1 UTSW 3 144,452,590 (GRCm39) missense probably damaging 0.99
R2079:Clca3a1 UTSW 3 144,713,534 (GRCm39) missense possibly damaging 0.80
R2129:Clca3a1 UTSW 3 144,722,526 (GRCm39) missense probably damaging 1.00
R2178:Clca3a1 UTSW 3 144,711,863 (GRCm39) missense probably damaging 1.00
R2234:Clca3a1 UTSW 3 144,714,829 (GRCm39) missense possibly damaging 0.93
R2235:Clca3a1 UTSW 3 144,714,829 (GRCm39) missense possibly damaging 0.93
R2238:Clca3a1 UTSW 3 144,457,766 (GRCm39) missense possibly damaging 0.94
R2240:Clca3a1 UTSW 3 144,714,746 (GRCm39) missense probably damaging 1.00
R2278:Clca3a1 UTSW 3 144,463,785 (GRCm39) missense probably damaging 0.99
R2516:Clca3a1 UTSW 3 144,443,619 (GRCm39) splice site probably null
R3737:Clca3a1 UTSW 3 144,436,482 (GRCm39) missense probably benign 0.01
R3751:Clca3a1 UTSW 3 144,724,424 (GRCm39) missense probably benign 0.01
R3974:Clca3a1 UTSW 3 144,738,400 (GRCm39) missense probably damaging 1.00
R3975:Clca3a1 UTSW 3 144,738,400 (GRCm39) missense probably damaging 1.00
R3981:Clca3a1 UTSW 3 144,461,070 (GRCm39) missense probably benign 0.00
R3982:Clca3a1 UTSW 3 144,461,070 (GRCm39) missense probably benign 0.00
R3983:Clca3a1 UTSW 3 144,461,070 (GRCm39) missense probably benign 0.00
R4038:Clca3a1 UTSW 3 144,460,994 (GRCm39) missense probably benign 0.35
R4382:Clca3a1 UTSW 3 144,466,483 (GRCm39) start codon destroyed probably benign 0.08
R4409:Clca3a1 UTSW 3 144,711,788 (GRCm39) missense probably damaging 1.00
R4543:Clca3a1 UTSW 3 144,452,749 (GRCm39) missense probably damaging 1.00
R4586:Clca3a1 UTSW 3 144,722,619 (GRCm39) missense probably damaging 1.00
R4751:Clca3a1 UTSW 3 144,710,609 (GRCm39) missense possibly damaging 0.89
R4766:Clca3a1 UTSW 3 144,455,473 (GRCm39) missense probably damaging 1.00
R4894:Clca3a1 UTSW 3 144,719,662 (GRCm39) missense probably damaging 0.99
R4899:Clca3a1 UTSW 3 144,443,722 (GRCm39) missense probably damaging 1.00
R4909:Clca3a1 UTSW 3 144,730,324 (GRCm39) missense probably damaging 1.00
R4916:Clca3a1 UTSW 3 144,721,605 (GRCm39) missense probably benign 0.01
R4941:Clca3a1 UTSW 3 144,721,414 (GRCm39) missense probably damaging 1.00
R4942:Clca3a1 UTSW 3 144,710,524 (GRCm39) missense probably benign 0.02
R5044:Clca3a1 UTSW 3 144,713,689 (GRCm39) splice site probably null
R5090:Clca3a1 UTSW 3 144,443,633 (GRCm39) missense probably benign 0.01
R5091:Clca3a1 UTSW 3 144,436,483 (GRCm39) missense probably benign 0.00
R5205:Clca3a1 UTSW 3 144,452,545 (GRCm39) missense possibly damaging 0.68
R5248:Clca3a1 UTSW 3 144,442,897 (GRCm39) missense possibly damaging 0.62
R5354:Clca3a1 UTSW 3 144,442,766 (GRCm39) missense possibly damaging 0.77
R5451:Clca3a1 UTSW 3 144,733,747 (GRCm39) missense probably damaging 1.00
R5618:Clca3a1 UTSW 3 144,710,738 (GRCm39) missense probably benign 0.00
R5724:Clca3a1 UTSW 3 144,714,833 (GRCm39) missense probably benign 0.01
R5871:Clca3a1 UTSW 3 144,460,642 (GRCm39) missense probably damaging 1.00
R5898:Clca3a1 UTSW 3 144,722,522 (GRCm39) missense possibly damaging 0.89
R5907:Clca3a1 UTSW 3 144,455,403 (GRCm39) intron probably benign
R5976:Clca3a1 UTSW 3 144,452,636 (GRCm39) missense probably damaging 1.00
R6190:Clca3a1 UTSW 3 144,463,821 (GRCm39) missense probably benign 0.40
R6193:Clca3a1 UTSW 3 144,464,993 (GRCm39) missense possibly damaging 0.65
R6238:Clca3a1 UTSW 3 144,714,716 (GRCm39) missense probably benign 0.09
R6263:Clca3a1 UTSW 3 144,455,539 (GRCm39) missense probably damaging 1.00
R6299:Clca3a1 UTSW 3 144,464,275 (GRCm39) missense probably damaging 0.99
R6327:Clca3a1 UTSW 3 144,436,558 (GRCm39) missense probably benign 0.02
R6497:Clca3a1 UTSW 3 144,465,020 (GRCm39) missense possibly damaging 0.81
R6542:Clca3a1 UTSW 3 144,465,021 (GRCm39) missense probably benign 0.01
R6547:Clca3a1 UTSW 3 144,442,708 (GRCm39) missense probably damaging 1.00
R6590:Clca3a1 UTSW 3 144,719,644 (GRCm39) missense probably damaging 1.00
R6591:Clca3a1 UTSW 3 144,719,644 (GRCm39) missense probably damaging 1.00
R6592:Clca3a1 UTSW 3 144,719,644 (GRCm39) missense probably damaging 1.00
R6690:Clca3a1 UTSW 3 144,719,644 (GRCm39) missense probably damaging 1.00
R6691:Clca3a1 UTSW 3 144,719,644 (GRCm39) missense probably damaging 1.00
R6729:Clca3a1 UTSW 3 144,711,727 (GRCm39) missense probably damaging 1.00
R6759:Clca3a1 UTSW 3 144,455,450 (GRCm39) missense probably damaging 1.00
R6805:Clca3a1 UTSW 3 144,724,428 (GRCm39) missense probably damaging 1.00
R7032:Clca3a1 UTSW 3 144,453,329 (GRCm39) missense probably benign 0.07
R7063:Clca3a1 UTSW 3 144,460,967 (GRCm39) missense probably damaging 0.97
R7106:Clca3a1 UTSW 3 144,733,190 (GRCm39) missense probably damaging 0.98
R7121:Clca3a1 UTSW 3 144,717,567 (GRCm39) missense probably damaging 1.00
R7127:Clca3a1 UTSW 3 144,711,806 (GRCm39) missense probably damaging 1.00
R7139:Clca3a1 UTSW 3 144,461,063 (GRCm39) missense possibly damaging 0.58
R7212:Clca3a1 UTSW 3 144,711,727 (GRCm39) missense probably damaging 1.00
R7444:Clca3a1 UTSW 3 144,733,193 (GRCm39) missense probably damaging 1.00
R7446:Clca3a1 UTSW 3 144,733,188 (GRCm39) missense possibly damaging 0.65
R7535:Clca3a1 UTSW 3 144,724,328 (GRCm39) missense probably damaging 0.99
R7638:Clca3a1 UTSW 3 144,457,723 (GRCm39) missense probably damaging 1.00
R7663:Clca3a1 UTSW 3 144,442,797 (GRCm39) missense probably benign 0.02
R7792:Clca3a1 UTSW 3 144,455,492 (GRCm39) missense possibly damaging 0.95
R7798:Clca3a1 UTSW 3 144,463,723 (GRCm39) missense probably damaging 1.00
R7892:Clca3a1 UTSW 3 144,436,579 (GRCm39) missense probably benign 0.00
R8096:Clca3a1 UTSW 3 144,455,446 (GRCm39) missense probably damaging 1.00
R8305:Clca3a1 UTSW 3 144,464,927 (GRCm39) splice site probably benign
R8416:Clca3a1 UTSW 3 144,460,914 (GRCm39) critical splice donor site probably null
R8437:Clca3a1 UTSW 3 144,710,822 (GRCm39) missense probably benign 0.00
R8446:Clca3a1 UTSW 3 144,454,248 (GRCm39) missense probably damaging 0.97
R8474:Clca3a1 UTSW 3 144,710,792 (GRCm39) missense possibly damaging 0.77
R8496:Clca3a1 UTSW 3 144,453,182 (GRCm39) makesense probably null
R8766:Clca3a1 UTSW 3 144,714,939 (GRCm39) splice site probably benign
R8884:Clca3a1 UTSW 3 144,719,757 (GRCm39) missense probably benign 0.35
R9014:Clca3a1 UTSW 3 144,442,731 (GRCm39) missense probably benign 0.01
R9049:Clca3a1 UTSW 3 144,733,143 (GRCm39) missense probably benign 0.01
R9128:Clca3a1 UTSW 3 144,463,795 (GRCm39) missense probably damaging 1.00
R9306:Clca3a1 UTSW 3 144,730,339 (GRCm39) missense probably damaging 1.00
R9601:Clca3a1 UTSW 3 144,453,310 (GRCm39) missense probably benign 0.27
X0020:Clca3a1 UTSW 3 144,738,421 (GRCm39) missense possibly damaging 0.89
Z1088:Clca3a1 UTSW 3 144,452,714 (GRCm39) missense probably damaging 1.00
Z1176:Clca3a1 UTSW 3 144,719,682 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTACTTGGCTGAGATGACTCC -3'
(R):5'- ACGTTCCCAGACATCTACTTGG -3'

Sequencing Primer
(F):5'- GATGACTCCATCTCTCCGTAGC -3'
(R):5'- AGACATCTACTTGGTCCCTCTAC -3'
Posted On 2022-09-12