Incidental Mutation 'R1570:Pih1d2'
ID177192
Institutional Source Beutler Lab
Gene Symbol Pih1d2
Ensembl Gene ENSMUSG00000000167
Gene NamePIH1 domain containing 2
Synonyms
MMRRC Submission 039609-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R1570 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location50617321-50625000 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50621179 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 195 (M195T)
Ref Sequence ENSEMBL: ENSMUSP00000122789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000151197] [ENSMUST00000155435] [ENSMUST00000171462]
Predicted Effect probably benign
Transcript: ENSMUST00000000171
AA Change: M179T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: M179T

DomainStartEndE-ValueType
Pfam:PIH1 19 314 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124029
Predicted Effect probably benign
Transcript: ENSMUST00000125606
SMART Domains Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 140 2.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131351
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132187
SMART Domains Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 92 1.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141366
AA Change: M195T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: M195T

DomainStartEndE-ValueType
Pfam:PIH1 35 198 2.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145139
Predicted Effect probably benign
Transcript: ENSMUST00000147671
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151197
AA Change: M179T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: M179T

DomainStartEndE-ValueType
Pfam:PIH1 19 235 1.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155435
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155773
Predicted Effect probably benign
Transcript: ENSMUST00000171462
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency 93% (77/83)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec1 A G 6: 122,591,085 probably null Het
Arhgap21 G T 2: 20,880,840 Q348K probably benign Het
Arl5c A G 11: 97,992,387 V129A probably benign Het
Armh1 A G 4: 117,229,992 S159P probably damaging Het
Asb8 A G 15: 98,136,428 L82P probably damaging Het
Bahcc1 G A 11: 120,272,183 A436T possibly damaging Het
Btc T C 5: 91,402,717 D2G unknown Het
C1s2 G A 6: 124,625,764 T490M probably benign Het
Caap1 C T 4: 94,556,577 G43D probably benign Het
Ccr5 T C 9: 124,124,963 V201A probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Cdhr5 C A 7: 141,271,769 G541C probably damaging Het
Cep170 A G 1: 176,755,801 I1004T possibly damaging Het
Chd9 A T 8: 91,036,542 M2332L probably benign Het
Clk1 T A 1: 58,414,425 H334L probably benign Het
Cyp4b1 G A 4: 115,635,963 S228F probably benign Het
Dnah9 T C 11: 66,112,330 N883D probably benign Het
Dync2h1 A G 9: 7,176,926 L11P probably benign Het
Ephx4 A G 5: 107,419,851 E225G probably damaging Het
Erich6 C T 3: 58,630,659 probably null Het
Espl1 A G 15: 102,298,367 T89A probably damaging Het
Evi2 T A 11: 79,516,250 K166N possibly damaging Het
Glrx5 A G 12: 105,032,868 T57A possibly damaging Het
Gm15448 T C 7: 3,823,061 E311G probably benign Het
Gm884 A G 11: 103,609,938 Y597H possibly damaging Het
Gnptab T A 10: 88,419,454 V222E probably damaging Het
Gpr155 T C 2: 73,370,038 Y375C possibly damaging Het
Hsd11b1 C G 1: 193,240,327 E141Q probably damaging Het
Ildr2 T C 1: 166,303,585 F337L probably damaging Het
Ino80 C T 2: 119,447,028 R322Q possibly damaging Het
Lcp2 A G 11: 34,089,601 D467G probably benign Het
Lmbr1 A G 5: 29,254,558 I229T probably damaging Het
Lnpep A T 17: 17,579,156 M79K probably damaging Het
Lpin1 T C 12: 16,560,998 Q564R possibly damaging Het
Lpin2 T A 17: 71,245,181 L794* probably null Het
Lrrc45 T C 11: 120,720,109 probably null Het
Mtus1 A G 8: 41,076,241 S751P probably damaging Het
Nbr1 T C 11: 101,564,830 probably benign Het
Nup107 A G 10: 117,763,844 F592S possibly damaging Het
Nup133 T A 8: 123,949,176 M1L possibly damaging Het
Olfr1104 A T 2: 87,022,272 S91T probably benign Het
Olfr1208 A C 2: 88,896,946 I217S probably damaging Het
Olfr139 A C 11: 74,044,807 F156V possibly damaging Het
Olfr434 T C 6: 43,217,351 V146A probably benign Het
Olfr548-ps1 C A 7: 102,541,970 H11Q probably damaging Het
Olfr732 T G 14: 50,281,524 H243P probably damaging Het
Otud7b T C 3: 96,155,891 C816R probably damaging Het
Pi4k2a T C 19: 42,100,644 V148A probably benign Het
Plpp6 T C 19: 28,964,778 F260L probably damaging Het
R3hcc1l A T 19: 42,581,954 T663S probably damaging Het
Rnf25 T C 1: 74,595,267 E199G probably damaging Het
Scin G A 12: 40,084,381 probably benign Het
Serpinb1c A T 13: 32,896,990 S37T probably benign Het
Snx19 A G 9: 30,428,343 D259G probably damaging Het
Sorcs3 A G 19: 48,764,181 K805R probably damaging Het
Sox6 C A 7: 115,777,123 G125W probably damaging Het
Spink5 A G 18: 43,967,107 I64V probably benign Het
St6galnac1 A G 11: 116,766,648 probably benign Het
Sult1c2 T C 17: 53,836,963 I105V probably benign Het
Tacr3 T G 3: 134,829,756 S162A probably damaging Het
Tex43 T A 18: 56,594,534 D101E probably benign Het
Ttc6 T C 12: 57,674,763 S1013P probably damaging Het
Zbtb11 C A 16: 55,990,815 N445K probably benign Het
Zfp423 A C 8: 87,782,558 V261G probably benign Het
Zfp59 T C 7: 27,853,591 V156A probably benign Het
Zscan2 C A 7: 80,863,393 A42E probably damaging Het
Other mutations in Pih1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Pih1d2 APN 9 50621877 missense probably benign 0.09
FR4449:Pih1d2 UTSW 9 50621627 frame shift probably null
R0390:Pih1d2 UTSW 9 50621046 missense probably damaging 1.00
R0443:Pih1d2 UTSW 9 50621103 missense possibly damaging 0.46
R1874:Pih1d2 UTSW 9 50620945 missense possibly damaging 0.68
R2207:Pih1d2 UTSW 9 50621079 missense probably benign 0.17
R4667:Pih1d2 UTSW 9 50620952 nonsense probably null
R5806:Pih1d2 UTSW 9 50618450 unclassified probably benign
R5811:Pih1d2 UTSW 9 50621074 missense probably damaging 1.00
R5949:Pih1d2 UTSW 9 50624984 missense probably damaging 1.00
R6156:Pih1d2 UTSW 9 50621152 missense possibly damaging 0.88
R6416:Pih1d2 UTSW 9 50618609 missense probably benign 0.00
R6711:Pih1d2 UTSW 9 50618010 start codon destroyed probably null
R7052:Pih1d2 UTSW 9 50621777 missense probably damaging 1.00
R7557:Pih1d2 UTSW 9 50624916 missense probably damaging 0.99
R7661:Pih1d2 UTSW 9 50618258 critical splice donor site probably null
R7770:Pih1d2 UTSW 9 50621801 missense not run
Predicted Primers PCR Primer
(F):5'- TGTTGCCTACAATCCTGGTGTTCTG -3'
(R):5'- CCAAAGAATCTGCTTGGGTTCCTGC -3'

Sequencing Primer
(F):5'- AATCCTGGTGTTCTGCAAGC -3'
(R):5'- TCCTGCAGGATGTTGACATC -3'
Posted On2014-04-24