Incidental Mutation 'R7185:Nipal1'
ID 559228
Institutional Source Beutler Lab
Gene Symbol Nipal1
Ensembl Gene ENSMUSG00000067219
Gene Name NIPA-like domain containing 1
Synonyms Npal1, 3830408G10Rik
MMRRC Submission 045237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R7185 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72805139-72828421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72824198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 181 (S181T)
Ref Sequence ENSEMBL: ENSMUSP00000084462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]
AlphaFold Q8BMW7
Predicted Effect probably damaging
Transcript: ENSMUST00000087212
AA Change: S181T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: S181T

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 66 360 6e-136 PFAM
Pfam:EamA 107 186 1.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197837
AA Change: S92T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: S92T

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 3 96 2.1e-45 PFAM
Pfam:EamA 17 96 2.8e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T A 11: 117,725,599 (GRCm39) D95E possibly damaging Het
Ak7 A G 12: 105,708,535 (GRCm39) E330G probably damaging Het
B3gat2 A C 1: 23,802,272 (GRCm39) D186A probably damaging Het
Baz1a G A 12: 55,022,093 (GRCm39) T63M probably damaging Het
Bhmt2 A T 13: 93,799,779 (GRCm39) M219K probably benign Het
Cd200r1 A G 16: 44,609,975 (GRCm39) T65A probably benign Het
Cdc14a T C 3: 116,087,676 (GRCm39) E494G probably benign Het
Cenpf A G 1: 189,385,686 (GRCm39) L2198P probably damaging Het
Col4a2 T A 8: 11,449,739 (GRCm39) D117E probably damaging Het
Ddr2 C A 1: 169,814,623 (GRCm39) V607L probably damaging Het
Dennd4c A G 4: 86,729,687 (GRCm39) Y763C probably damaging Het
Ecscr T A 18: 35,849,857 (GRCm39) T93S probably benign Het
Eogt C T 6: 97,097,139 (GRCm39) R321H probably damaging Het
Fam174c G A 10: 80,008,963 (GRCm39) G55E probably damaging Het
Fras1 T C 5: 96,784,635 (GRCm39) S873P probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm8247 A G 14: 44,823,859 (GRCm39) I182V Het
Gpatch2 T C 1: 186,958,394 (GRCm39) S250P probably damaging Het
Gramd1b T C 9: 40,244,859 (GRCm39) D183G probably benign Het
Hspa5 T C 2: 34,665,138 (GRCm39) V433A probably damaging Het
Igkv8-30 C A 6: 70,094,590 (GRCm39) Q4H probably benign Het
Igkv8-30 T G 6: 70,094,591 (GRCm39) Q4P probably damaging Het
Kcnj5 T G 9: 32,233,472 (GRCm39) N281T probably damaging Het
L1td1 A G 4: 98,624,855 (GRCm39) E350G possibly damaging Het
Layn T C 9: 50,985,173 (GRCm39) T128A possibly damaging Het
Liph T C 16: 21,814,089 (GRCm39) M11V probably benign Het
Lrp1b C T 2: 40,691,524 (GRCm39) probably null Het
Mcrip1 A C 11: 120,435,505 (GRCm39) probably null Het
Myh1 G A 11: 67,098,285 (GRCm39) E486K probably damaging Het
Nav1 T C 1: 135,398,746 (GRCm39) K612R possibly damaging Het
Nek10 A G 14: 14,846,621 (GRCm38) K245E probably benign Het
Nme8 A C 13: 19,862,053 (GRCm39) L192R probably damaging Het
Nol7 G A 13: 43,560,307 (GRCm39) probably null Het
Oas1b G A 5: 120,955,837 (GRCm39) R205H not run Het
Or13j1 A G 4: 43,706,082 (GRCm39) I162T possibly damaging Het
Or4f56 T G 2: 111,704,167 (GRCm39) E11A possibly damaging Het
Or5w15 A G 2: 87,568,489 (GRCm39) Y60H probably damaging Het
Pcdhgb6 T C 18: 37,876,701 (GRCm39) S470P probably benign Het
Pdzk1ip1 A T 4: 114,946,305 (GRCm39) H55L possibly damaging Het
Pibf1 T A 14: 99,344,752 (GRCm39) M124K possibly damaging Het
Prr36 C T 8: 4,266,458 (GRCm39) G31R probably damaging Het
Ptchd4 C A 17: 42,814,079 (GRCm39) A660D probably damaging Het
Qsox2 A G 2: 26,110,718 (GRCm39) V166A possibly damaging Het
Rb1cc1 A T 1: 6,308,607 (GRCm39) Y164F probably damaging Het
Rest C A 5: 77,430,331 (GRCm39) H917N probably benign Het
Rlig1 T C 10: 100,425,073 (GRCm39) probably benign Het
Rnf213 T C 11: 119,315,024 (GRCm39) C955R Het
Scn7a T A 2: 66,518,139 (GRCm39) N1024I possibly damaging Het
Sec11c T A 18: 65,947,963 (GRCm39) D134E probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spo11 T A 2: 172,823,985 (GRCm39) probably null Het
Srd5a3 T C 5: 76,301,419 (GRCm39) I216T probably benign Het
Tcaf3 T C 6: 42,570,864 (GRCm39) N296S probably benign Het
Tepsin T C 11: 119,984,643 (GRCm39) D259G probably damaging Het
Themis G A 10: 28,657,873 (GRCm39) S300N probably benign Het
Trhr2 T A 8: 123,087,396 (GRCm39) T15S probably benign Het
Uts2r T C 11: 121,051,706 (GRCm39) V190A probably benign Het
Vmn2r77 A C 7: 86,451,035 (GRCm39) D307A probably benign Het
Xpa G T 4: 46,183,078 (GRCm39) T237K probably benign Het
Zfp1006 A T 8: 129,946,502 (GRCm39) C108S probably benign Het
Zfp335 A G 2: 164,735,164 (GRCm39) probably null Het
Zfp451 A T 1: 33,808,974 (GRCm39) D962E probably damaging Het
Zfp60 A G 7: 27,437,830 (GRCm39) T46A probably damaging Het
Zfy1 G A Y: 725,464 (GRCm39) S767L possibly damaging Het
Other mutations in Nipal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Nipal1 APN 5 72,816,067 (GRCm39) missense probably benign
IGL01894:Nipal1 APN 5 72,820,882 (GRCm39) missense probably benign 0.02
IGL01962:Nipal1 APN 5 72,825,401 (GRCm39) missense possibly damaging 0.50
IGL02145:Nipal1 APN 5 72,824,274 (GRCm39) missense probably damaging 1.00
IGL02902:Nipal1 APN 5 72,825,405 (GRCm39) missense possibly damaging 0.49
IGL02934:Nipal1 APN 5 72,805,250 (GRCm39) missense probably damaging 1.00
IGL03024:Nipal1 APN 5 72,820,968 (GRCm39) critical splice donor site probably null
IGL03237:Nipal1 APN 5 72,824,150 (GRCm39) missense probably damaging 0.99
R0848:Nipal1 UTSW 5 72,825,183 (GRCm39) missense probably damaging 0.99
R1024:Nipal1 UTSW 5 72,825,334 (GRCm39) frame shift probably null
R2106:Nipal1 UTSW 5 72,820,902 (GRCm39) missense probably damaging 0.99
R2883:Nipal1 UTSW 5 72,825,073 (GRCm39) missense probably damaging 1.00
R2932:Nipal1 UTSW 5 72,824,978 (GRCm39) missense possibly damaging 0.46
R5364:Nipal1 UTSW 5 72,825,243 (GRCm39) missense probably damaging 1.00
R6175:Nipal1 UTSW 5 72,820,898 (GRCm39) missense probably damaging 1.00
R6523:Nipal1 UTSW 5 72,824,951 (GRCm39) missense probably damaging 0.97
R7436:Nipal1 UTSW 5 72,824,984 (GRCm39) missense probably benign 0.00
R9388:Nipal1 UTSW 5 72,825,557 (GRCm39) makesense probably null
RF011:Nipal1 UTSW 5 72,824,156 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTGGGGTACAGAGTGACATAC -3'
(R):5'- CCTCAGTGTCACCACAGATTTC -3'

Sequencing Primer
(F):5'- CACTGCAGTGTGGCCTCTAAG -3'
(R):5'- TGCTGGAAATGTCAGCACTC -3'
Posted On 2019-06-26