Incidental Mutation 'R9439:Nkx6-3'
ID 713440
Institutional Source Beutler Lab
Gene Symbol Nkx6-3
Ensembl Gene ENSMUSG00000063672
Gene Name NK6 homeobox 3
Synonyms 9130417I07Rik, Nkx6.3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R9439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 23643287-23648964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23643778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 60 (S60G)
Ref Sequence ENSEMBL: ENSMUSP00000071517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071588] [ENSMUST00000084038] [ENSMUST00000110688] [ENSMUST00000117296] [ENSMUST00000117662] [ENSMUST00000118733] [ENSMUST00000121075] [ENSMUST00000121802] [ENSMUST00000123418] [ENSMUST00000141784] [ENSMUST00000173248] [ENSMUST00000173573]
AlphaFold Q3UHX8
Predicted Effect probably benign
Transcript: ENSMUST00000071588
AA Change: S60G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071517
Gene: ENSMUSG00000063672
AA Change: S60G

DomainStartEndE-ValueType
HOX 140 202 3.88e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084038
SMART Domains Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110688
SMART Domains Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
ANK 44 73 2.5e3 SMART
ANK 77 106 3.26e0 SMART
ANK 110 139 3.15e-7 SMART
ANK 143 172 9.05e-8 SMART
ANK 176 204 4.67e-1 SMART
ANK 205 234 1.42e0 SMART
ANK 238 267 4.39e-6 SMART
ANK 271 300 1.33e-5 SMART
ANK 304 333 7.53e-5 SMART
ANK 337 366 2.35e-6 SMART
ANK 370 399 6.65e-6 SMART
ANK 403 432 5.2e-8 SMART
ANK 436 465 8.78e-6 SMART
ANK 469 498 7.53e-5 SMART
ANK 502 531 5.49e-7 SMART
ANK 535 564 2.58e-3 SMART
ANK 568 597 1.88e-5 SMART
ANK 601 630 1.02e-6 SMART
ANK 634 663 7.64e-6 SMART
ANK 667 698 3.23e-4 SMART
ANK 700 729 1.38e-3 SMART
ANK 733 762 1.58e-7 SMART
ANK 766 795 2.85e-5 SMART
ZU5 944 1048 1.9e-60 SMART
low complexity region 1071 1080 N/A INTRINSIC
low complexity region 1408 1418 N/A INTRINSIC
DEATH 1426 1520 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117296
SMART Domains Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117662
SMART Domains Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118733
SMART Domains Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121075
SMART Domains Protein: ENSMUSP00000112966
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121802
SMART Domains Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
ANK 44 73 2.5e3 SMART
ANK 77 106 3.26e0 SMART
ANK 110 139 3.15e-7 SMART
ANK 143 172 9.05e-8 SMART
ANK 176 204 4.67e-1 SMART
ANK 205 234 1.42e0 SMART
ANK 238 267 4.39e-6 SMART
ANK 271 300 1.33e-5 SMART
ANK 304 333 7.53e-5 SMART
ANK 337 366 2.35e-6 SMART
ANK 370 399 6.65e-6 SMART
ANK 403 432 5.2e-8 SMART
ANK 436 465 8.78e-6 SMART
ANK 469 498 7.53e-5 SMART
ANK 502 531 5.49e-7 SMART
ANK 535 564 2.58e-3 SMART
ANK 568 597 1.88e-5 SMART
ANK 601 630 1.02e-6 SMART
ANK 634 663 7.64e-6 SMART
ANK 667 698 3.23e-4 SMART
ANK 700 729 1.38e-3 SMART
ANK 733 762 1.58e-7 SMART
ANK 766 795 2.85e-5 SMART
ZU5 952 1056 1.9e-60 SMART
low complexity region 1079 1088 N/A INTRINSIC
low complexity region 1416 1426 N/A INTRINSIC
DEATH 1434 1528 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123418
SMART Domains Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141784
SMART Domains Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173248
SMART Domains Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173573
SMART Domains Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly decreased number of gastrin-producing (G) cells in the stomach antrum, hypogastrinemia, and increased stomach luminal pH, with a corresponding increase in antral somatostatin-producing (D) cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,048 (GRCm39) E412D probably benign Het
Aak1 T A 6: 86,933,274 (GRCm39) V415D probably damaging Het
Ache A C 5: 137,289,185 (GRCm39) D297A probably damaging Het
Armc9 T C 1: 86,084,687 (GRCm39) I4T possibly damaging Het
Atp8b2 T A 3: 89,851,492 (GRCm39) Y925F Het
Avpr1b T C 1: 131,528,029 (GRCm39) L184P probably damaging Het
Cabin1 G A 10: 75,581,069 (GRCm39) P419L probably damaging Het
Ccdc88c T C 12: 100,884,597 (GRCm39) S1578G probably benign Het
Ccnd2 A T 6: 127,127,617 (GRCm39) C40* probably null Het
Col6a3 A T 1: 90,744,155 (GRCm39) I471N probably damaging Het
Cp A G 3: 20,046,671 (GRCm39) probably null Het
Cyfip2 C T 11: 46,091,668 (GRCm39) R1084Q probably damaging Het
Diaph1 A G 18: 38,029,412 (GRCm39) probably null Het
Dnah6 T C 6: 73,012,330 (GRCm39) N3713S possibly damaging Het
Dot1l G T 10: 80,621,438 (GRCm39) R633L possibly damaging Het
Ehmt1 A T 2: 24,715,030 (GRCm39) M809K probably damaging Het
Fcgbp C A 7: 27,803,436 (GRCm39) A1680E possibly damaging Het
Flt1 A G 5: 147,515,207 (GRCm39) F1072L probably damaging Het
Gm19410 G T 8: 36,248,810 (GRCm39) A549S probably damaging Het
Gm57859 C T 11: 113,583,229 (GRCm39) Q519* probably null Het
Gnat1 A T 9: 107,553,511 (GRCm39) I249N Het
Gp2 T C 7: 119,053,433 (GRCm39) Y176C probably damaging Het
Gpc2 G T 5: 138,277,248 (GRCm39) Q60K probably benign Het
Gpsm2 T A 3: 108,610,397 (GRCm39) E21V probably damaging Het
Igkv4-80 T A 6: 68,993,793 (GRCm39) M33L probably benign Het
Il20ra C A 10: 19,618,751 (GRCm39) H66Q probably benign Het
Kap C T 6: 133,828,950 (GRCm39) D61N probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mpp7 A T 18: 7,461,692 (GRCm39) Y60* probably null Het
Neil1 T A 9: 57,051,098 (GRCm39) R294* probably null Het
Noc2l T A 4: 156,326,130 (GRCm39) S406T possibly damaging Het
Or11m3 T C 15: 98,396,247 (GRCm39) V298A possibly damaging Het
Or14j2 A G 17: 37,885,825 (GRCm39) I163T probably benign Het
Or2h2c A G 17: 37,422,205 (GRCm39) V223A probably damaging Het
Or2t46 T C 11: 58,472,104 (GRCm39) C145R probably benign Het
Or51ac3 T G 7: 103,214,049 (GRCm39) I146L probably benign Het
Or5p81 T C 7: 108,266,626 (GRCm39) M1T probably null Het
Paqr4 A G 17: 23,958,939 (GRCm39) F21L probably damaging Het
Pcdha9 A G 18: 37,131,527 (GRCm39) T199A probably benign Het
Pcdhgb7 T C 18: 37,884,917 (GRCm39) L29P probably benign Het
Pfkl G A 10: 77,831,172 (GRCm39) A323V probably damaging Het
Pik3r4 C A 9: 105,528,041 (GRCm39) P465T probably damaging Het
Pitpnm2 A G 5: 124,274,189 (GRCm39) S307P probably damaging Het
Pitpnm2 A G 5: 124,278,659 (GRCm39) Y191H probably damaging Het
Plod3 G A 5: 137,023,036 (GRCm39) V613I probably benign Het
Prr23a2 C T 9: 98,738,921 (GRCm39) T93I probably damaging Het
Ptk6 T A 2: 180,840,206 (GRCm39) M267L possibly damaging Het
Rabl6 C T 2: 25,492,432 (GRCm39) probably null Het
Ralgapa2 T C 2: 146,254,058 (GRCm39) H787R probably benign Het
Rfx8 T G 1: 39,724,669 (GRCm39) M231L probably benign Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Smpd4 A G 16: 17,459,451 (GRCm39) I625V probably benign Het
Tcf7l1 A G 6: 72,765,740 (GRCm39) S66P probably damaging Het
Tsc22d1 G A 14: 76,743,899 (GRCm39) V1007M probably damaging Het
Tspoap1 C T 11: 87,665,535 (GRCm39) R758C probably damaging Het
Vmn1r210 A C 13: 23,011,397 (GRCm39) H296Q possibly damaging Het
Zfp532 G A 18: 65,818,714 (GRCm39) V857I probably benign Het
Zfyve9 T C 4: 108,501,538 (GRCm39) T593A probably benign Het
Other mutations in Nkx6-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Nkx6-3 UTSW 8 23,643,607 (GRCm39) missense probably benign 0.00
R0360:Nkx6-3 UTSW 8 23,647,722 (GRCm39) missense possibly damaging 0.93
R0364:Nkx6-3 UTSW 8 23,647,722 (GRCm39) missense possibly damaging 0.93
R3954:Nkx6-3 UTSW 8 23,643,742 (GRCm39) missense possibly damaging 0.53
R4724:Nkx6-3 UTSW 8 23,646,285 (GRCm39) missense probably damaging 1.00
R4885:Nkx6-3 UTSW 8 23,643,914 (GRCm39) missense possibly damaging 0.95
R4969:Nkx6-3 UTSW 8 23,647,725 (GRCm39) missense probably damaging 1.00
R5165:Nkx6-3 UTSW 8 23,643,759 (GRCm39) missense probably damaging 1.00
R6220:Nkx6-3 UTSW 8 23,643,987 (GRCm39) critical splice donor site probably null
R6262:Nkx6-3 UTSW 8 23,643,863 (GRCm39) missense probably benign 0.34
R6894:Nkx6-3 UTSW 8 23,647,632 (GRCm39) missense probably benign 0.41
R7440:Nkx6-3 UTSW 8 23,643,770 (GRCm39) missense probably damaging 1.00
R8515:Nkx6-3 UTSW 8 23,643,707 (GRCm39) missense possibly damaging 0.83
R8841:Nkx6-3 UTSW 8 23,646,274 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCATGGAGTCCAACCTG -3'
(R):5'- GAAGGCCCTGTACTCACTGTTG -3'

Sequencing Primer
(F):5'- ATGGAGTCCAACCTGCAGGG -3'
(R):5'- ACTCACTGTTGCTGCATGG -3'
Posted On 2022-05-16