Incidental Mutation 'R0239:Nipal4'
ID 37218
Institutional Source Beutler Lab
Gene Symbol Nipal4
Ensembl Gene ENSMUSG00000020411
Gene Name NIPA-like domain containing 4
Synonyms 9530066K23Rik
MMRRC Submission 038477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0239 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46038982-46057186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46041268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 309 (V309A)
Ref Sequence ENSEMBL: ENSMUSP00000020679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400] [ENSMUST00000020679]
AlphaFold Q8BZF2
Predicted Effect probably benign
Transcript: ENSMUST00000011400
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 32 163 9.4e-27 PFAM
Pfam:Reprolysin_5 209 388 1.9e-25 PFAM
Pfam:Reprolysin_4 209 399 1.5e-15 PFAM
Pfam:Reprolysin 211 409 1.3e-68 PFAM
Pfam:Reprolysin_2 231 399 6.1e-19 PFAM
Pfam:Reprolysin_3 235 357 1.2e-19 PFAM
DISIN 426 501 9.7e-41 SMART
ACR 502 650 7.46e-62 SMART
transmembrane domain 704 726 N/A INTRINSIC
low complexity region 788 797 N/A INTRINSIC
low complexity region 832 846 N/A INTRINSIC
low complexity region 886 905 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000020679
AA Change: V309A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: V309A

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 56 350 1.6e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144915
Meta Mutation Damage Score 0.2022 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency 100% (3/3)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 137,771,595 (GRCm39) probably benign Het
Adra1d C A 2: 131,388,134 (GRCm39) V474F probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Ash1l A G 3: 88,974,529 (GRCm39) D2618G possibly damaging Het
Atp6v1c2 C A 12: 17,344,676 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Camta1 A G 4: 151,228,187 (GRCm39) W882R probably damaging Het
Cd72 A G 4: 43,453,163 (GRCm39) V91A probably benign Het
Cdh12 T C 15: 21,586,493 (GRCm39) W771R probably damaging Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
D3Ertd751e A G 3: 41,708,313 (GRCm39) Y150C probably damaging Het
Depdc5 T C 5: 33,100,584 (GRCm39) S832P probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Elp1 C A 4: 56,784,596 (GRCm39) V466L probably benign Het
Espnl T C 1: 91,250,009 (GRCm39) V52A probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gemin6 C A 17: 80,533,139 (GRCm39) A24D probably damaging Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hyal5 T A 6: 24,876,343 (GRCm39) L72Q probably damaging Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Kbtbd3 G T 9: 4,330,144 (GRCm39) V173L possibly damaging Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Nacc2 T G 2: 25,952,273 (GRCm39) N361T probably damaging Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nomo1 T C 7: 45,729,018 (GRCm39) probably null Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Nwd2 A T 5: 63,957,467 (GRCm39) I266F probably benign Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pah C T 10: 87,403,143 (GRCm39) P173S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plekha4 A G 7: 45,181,782 (GRCm39) H62R probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Ptk2 A T 15: 73,215,132 (GRCm39) probably null Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Scai T A 2: 38,965,054 (GRCm39) I597F probably benign Het
Sirpd A G 3: 15,361,661 (GRCm39) L163P probably damaging Het
Slc35c2 C T 2: 165,122,757 (GRCm39) G176S probably damaging Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d31 C A 15: 57,804,149 (GRCm39) T388N probably benign Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tmem79 A G 3: 88,240,628 (GRCm39) S107P probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Tsnaxip1 T A 8: 106,571,120 (GRCm39) I660N possibly damaging Het
Ube2q2 T C 9: 55,070,291 (GRCm39) S78P probably damaging Het
Vac14 A T 8: 111,362,007 (GRCm39) probably null Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp532 A T 18: 65,816,056 (GRCm39) I810F possibly damaging Het
Zfp599 C T 9: 22,161,055 (GRCm39) C370Y probably damaging Het
Other mutations in Nipal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Nipal4 APN 11 46,042,152 (GRCm39) missense probably damaging 1.00
IGL03203:Nipal4 APN 11 46,041,123 (GRCm39) missense probably damaging 1.00
H8786:Nipal4 UTSW 11 46,041,304 (GRCm39) missense probably damaging 1.00
R0239:Nipal4 UTSW 11 46,041,268 (GRCm39) missense possibly damaging 0.80
R0331:Nipal4 UTSW 11 46,041,040 (GRCm39) missense probably damaging 1.00
R0414:Nipal4 UTSW 11 46,052,735 (GRCm39) missense probably damaging 1.00
R0613:Nipal4 UTSW 11 46,041,211 (GRCm39) missense probably benign 0.31
R0940:Nipal4 UTSW 11 46,041,139 (GRCm39) missense possibly damaging 0.48
R1797:Nipal4 UTSW 11 46,042,160 (GRCm39) missense probably benign 0.06
R1889:Nipal4 UTSW 11 46,041,560 (GRCm39) missense probably damaging 0.99
R1899:Nipal4 UTSW 11 46,041,058 (GRCm39) missense probably damaging 1.00
R1974:Nipal4 UTSW 11 46,042,210 (GRCm39) missense probably damaging 1.00
R2066:Nipal4 UTSW 11 46,047,622 (GRCm39) missense probably damaging 1.00
R3705:Nipal4 UTSW 11 46,052,678 (GRCm39) splice site probably benign
R3941:Nipal4 UTSW 11 46,041,473 (GRCm39) missense probably damaging 1.00
R4597:Nipal4 UTSW 11 46,042,156 (GRCm39) missense probably damaging 1.00
R4965:Nipal4 UTSW 11 46,052,837 (GRCm39) missense possibly damaging 0.68
R5888:Nipal4 UTSW 11 46,042,166 (GRCm39) missense probably damaging 0.98
R6533:Nipal4 UTSW 11 46,041,234 (GRCm39) nonsense probably null
R7444:Nipal4 UTSW 11 46,057,062 (GRCm39) missense probably benign 0.27
R8099:Nipal4 UTSW 11 46,052,848 (GRCm39) missense probably benign 0.05
R8203:Nipal4 UTSW 11 46,041,147 (GRCm39) missense probably damaging 1.00
R8825:Nipal4 UTSW 11 46,052,873 (GRCm39) missense probably benign 0.01
R8826:Nipal4 UTSW 11 46,045,470 (GRCm39) missense possibly damaging 0.63
R8881:Nipal4 UTSW 11 46,042,177 (GRCm39) missense probably benign 0.00
R9514:Nipal4 UTSW 11 46,052,922 (GRCm39) critical splice acceptor site probably null
R9768:Nipal4 UTSW 11 46,041,473 (GRCm39) missense probably damaging 1.00
X0018:Nipal4 UTSW 11 46,052,873 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGAGAGGTCAGGCTGGACCATTG -3'
(R):5'- CCCACGTTACGGGCAAAGGAATATC -3'

Sequencing Primer
(F):5'- GCATTCCAGGCTTTAAGAATCGG -3'
(R):5'- GCTTGGTGTCACCATTAGGAAC -3'
Posted On 2013-05-09