Incidental Mutation 'R0414:Nipal4'
ID40177
Institutional Source Beutler Lab
Gene Symbol Nipal4
Ensembl Gene ENSMUSG00000020411
Gene NameNIPA-like domain containing 4
Synonyms
MMRRC Submission 038616-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R0414 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location46148155-46166508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46161908 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 77 (I77F)
Ref Sequence ENSEMBL: ENSMUSP00000020679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020679]
Predicted Effect probably damaging
Transcript: ENSMUST00000020679
AA Change: I77F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: I77F

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 56 350 1.6e-122 PFAM
Meta Mutation Damage Score 0.23 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,649,490 V51E probably benign Het
4922502D21Rik T C 6: 129,326,850 probably benign Het
Abo T C 2: 26,843,416 Y259C probably damaging Het
Adamts5 A G 16: 85,877,906 S457P probably damaging Het
Alk G T 17: 71,899,286 probably benign Het
Alpk2 A G 18: 65,306,159 I1188T probably benign Het
Ambra1 T C 2: 91,875,739 S730P possibly damaging Het
Arhgef2 T C 3: 88,632,268 probably benign Het
B3gnt7 T C 1: 86,305,629 I82T probably damaging Het
B4galnt3 T C 6: 120,216,565 D400G probably benign Het
Bag4 A G 8: 25,767,997 V434A possibly damaging Het
BC055324 T C 1: 163,968,321 I434V probably benign Het
Cfc1 A G 1: 34,537,328 D130G probably damaging Het
Chd4 T C 6: 125,107,480 Y692H probably damaging Het
Cilp2 A G 8: 69,882,993 S452P probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 134,072,636 probably benign Het
Dnah2 T C 11: 69,499,238 D727G probably benign Het
Dock10 C A 1: 80,535,933 V1129F possibly damaging Het
Dsc1 A T 18: 20,088,354 I688N possibly damaging Het
Dyrk1a C G 16: 94,663,842 T103R probably damaging Het
Ebf1 C T 11: 44,924,470 R304* probably null Het
Eif2s2 A G 2: 154,884,461 probably benign Het
Endov T G 11: 119,499,571 Y8* probably null Het
Eps15 T A 4: 109,366,480 D485E probably damaging Het
Fam118a C A 15: 85,045,689 S39R probably damaging Het
Fam173b T A 15: 31,617,002 Y126* probably null Het
Fbxo22 T A 9: 55,223,626 M393K possibly damaging Het
Gab1 A G 8: 80,800,289 I60T probably damaging Het
Gapvd1 A G 2: 34,693,427 L1059P probably benign Het
Gbp5 A G 3: 142,507,913 probably null Het
Glb1l2 T A 9: 26,765,104 K487* probably null Het
Hist1h1a A G 13: 23,764,158 probably benign Het
Hmcn1 T C 1: 150,715,822 I1875M possibly damaging Het
Jkamp T C 12: 72,094,145 probably null Het
Kprp C T 3: 92,825,713 C10Y probably damaging Het
Lrig2 A G 3: 104,494,056 probably null Het
Lrrn3 T A 12: 41,453,940 N126I probably damaging Het
Mug1 T C 6: 121,856,554 F325L probably benign Het
Myadm AC ACC 7: 3,296,760 probably null Het
Nagk C T 6: 83,797,267 R87* probably null Het
Olfr1217 A G 2: 89,023,146 Y286H probably damaging Het
Osbp2 T C 11: 3,819,932 H250R probably damaging Het
Pcx T C 19: 4,607,642 V378A possibly damaging Het
Pfkp T A 13: 6,593,210 H524L probably benign Het
Picalm A T 7: 90,189,198 N370I possibly damaging Het
Plcl2 A C 17: 50,607,955 D664A possibly damaging Het
Ptpn5 G A 7: 47,083,136 P320S probably benign Het
Scn3a T A 2: 65,525,982 probably benign Het
Sfswap A G 5: 129,504,051 D96G possibly damaging Het
Slfn1 A G 11: 83,121,270 I71V probably benign Het
Spata1 A G 3: 146,476,188 probably null Het
Stx18 T C 5: 38,105,005 probably benign Het
Suox T A 10: 128,671,457 H234L probably benign Het
Tbc1d17 T C 7: 44,846,059 S114G probably benign Het
Tfeb T A 17: 47,788,299 probably null Het
Tnks A C 8: 34,853,309 V736G probably damaging Het
Wdhd1 T C 14: 47,276,588 T4A probably benign Het
Wdr66 A G 5: 123,287,413 probably null Het
Other mutations in Nipal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Nipal4 APN 11 46151325 missense probably damaging 1.00
IGL03203:Nipal4 APN 11 46150296 missense probably damaging 1.00
H8786:Nipal4 UTSW 11 46150477 missense probably damaging 1.00
R0239:Nipal4 UTSW 11 46150441 missense possibly damaging 0.80
R0239:Nipal4 UTSW 11 46150441 missense possibly damaging 0.80
R0331:Nipal4 UTSW 11 46150213 missense probably damaging 1.00
R0613:Nipal4 UTSW 11 46150384 missense probably benign 0.31
R0940:Nipal4 UTSW 11 46150312 missense possibly damaging 0.48
R1797:Nipal4 UTSW 11 46151333 missense probably benign 0.06
R1889:Nipal4 UTSW 11 46150733 missense probably damaging 0.99
R1899:Nipal4 UTSW 11 46150231 missense probably damaging 1.00
R1974:Nipal4 UTSW 11 46151383 missense probably damaging 1.00
R2066:Nipal4 UTSW 11 46156795 missense probably damaging 1.00
R3705:Nipal4 UTSW 11 46161851 splice site probably benign
R3941:Nipal4 UTSW 11 46150646 missense probably damaging 1.00
R4597:Nipal4 UTSW 11 46151329 missense probably damaging 1.00
R4965:Nipal4 UTSW 11 46162010 missense possibly damaging 0.68
R5888:Nipal4 UTSW 11 46151339 missense probably damaging 0.98
R6533:Nipal4 UTSW 11 46150407 nonsense probably null
X0018:Nipal4 UTSW 11 46162046 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGATTCTCAGCAGGGTTGACAATG -3'
(R):5'- AGTTCTACGCCATGCCCACATC -3'

Sequencing Primer
(F):5'- TTGACAATGAGCCCCCAGTG -3'
(R):5'- AGGCTCCATAGTCAGCCTC -3'
Posted On2013-05-23