Incidental Mutation 'R1551:Psd4'
ID 169894
Institutional Source Beutler Lab
Gene Symbol Psd4
Ensembl Gene ENSMUSG00000026979
Gene Name pleckstrin and Sec7 domain containing 4
Synonyms SEC7 homolog, EFA6B
MMRRC Submission 039590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1551 (G1)
Quality Score 196
Status Not validated
Chromosome 2
Chromosomal Location 24257571-24299882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24293292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 719 (M719K)
Ref Sequence ENSEMBL: ENSMUSP00000132395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056641] [ENSMUST00000102942] [ENSMUST00000140303] [ENSMUST00000166388]
AlphaFold Q8BLR5
Predicted Effect probably benign
Transcript: ENSMUST00000056641
AA Change: M719K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: M719K

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102942
AA Change: M719K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: M719K

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132924
Predicted Effect probably benign
Transcript: ENSMUST00000140303
Predicted Effect probably benign
Transcript: ENSMUST00000166388
AA Change: M719K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: M719K

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 83.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,101 (GRCm39) I1534M probably benign Het
Acad11 G A 9: 104,003,785 (GRCm39) A626T probably damaging Het
Akap9 T A 5: 4,119,174 (GRCm39) N3560K probably benign Het
Aldh3a2 C T 11: 61,144,470 (GRCm39) V363I probably benign Het
Anks1b A G 10: 89,912,843 (GRCm39) T289A probably benign Het
Atp11a A G 8: 12,862,340 (GRCm39) N64S probably damaging Het
Atp11c T C X: 59,282,072 (GRCm39) probably null Het
Cd101 T C 3: 100,919,329 (GRCm39) H591R probably damaging Het
Cd36 C T 5: 18,002,120 (GRCm39) V294I probably benign Het
Cfap47 C A X: 78,532,251 (GRCm39) L842F probably damaging Het
Cgref1 T C 5: 31,090,929 (GRCm39) E295G probably benign Het
Cit A G 5: 116,083,901 (GRCm39) M787V probably benign Het
Clcn6 G A 4: 148,097,235 (GRCm39) P611S possibly damaging Het
Clec12a A C 6: 129,327,384 (GRCm39) M1L probably damaging Het
Cmtm6 C T 9: 114,575,573 (GRCm39) R161W probably damaging Het
Colec10 G T 15: 54,325,658 (GRCm39) V163L probably damaging Het
Coq8b A G 7: 26,956,907 (GRCm39) Y520C probably damaging Het
Ctsll3 C A 13: 60,948,821 (GRCm39) E45* probably null Het
Dsg3 A G 18: 20,669,975 (GRCm39) E663G possibly damaging Het
Dst G A 1: 34,231,293 (GRCm39) R2962H probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fbxo36 T C 1: 84,858,835 (GRCm39) I40T probably damaging Het
Fgd2 G A 17: 29,597,383 (GRCm39) V568M probably damaging Het
Fmn1 T C 2: 113,356,207 (GRCm39) Y883H possibly damaging Het
Fpr-rs4 A T 17: 18,242,589 (GRCm39) T199S possibly damaging Het
Gm12789 A G 4: 101,846,131 (GRCm39) K131E probably benign Het
Gm17641 C A 3: 68,777,448 (GRCm39) silent Het
Gm6665 G T 18: 31,953,340 (GRCm39) R43S probably damaging Het
Gzmc T A 14: 56,470,203 (GRCm39) H98L probably damaging Het
Hecw1 T A 13: 14,491,528 (GRCm39) E75V probably damaging Het
Herc2 G T 7: 55,796,417 (GRCm39) V1930L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htr6 A T 4: 138,801,776 (GRCm39) C99* probably null Het
Lgals2 C T 15: 78,736,511 (GRCm39) M16I probably benign Het
Lrrc8c A G 5: 105,756,090 (GRCm39) N622D probably damaging Het
Myo15a A T 11: 60,383,791 (GRCm39) I1613F possibly damaging Het
Oacyl C T 18: 65,875,280 (GRCm39) R455C probably benign Het
Or13c25 A T 4: 52,911,397 (GRCm39) Y132* probably null Het
Or5ac21 T A 16: 59,123,766 (GRCm39) N84K probably benign Het
Or5bh3 T C X: 49,098,872 (GRCm39) T81A possibly damaging Het
Orm3 A G 4: 63,275,146 (GRCm39) probably null Het
Phf2 G C 13: 48,985,579 (GRCm39) T67S unknown Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pigt T C 2: 164,349,323 (GRCm39) V542A probably damaging Het
Pnpla7 T C 2: 24,937,720 (GRCm39) F992L probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pramel11 A G 4: 143,622,263 (GRCm39) M364T probably benign Het
Prmt7 A G 8: 106,964,014 (GRCm39) T303A probably benign Het
Prpf4b A T 13: 35,078,426 (GRCm39) I679F possibly damaging Het
Ranbp9 A T 13: 43,578,593 (GRCm39) M160K probably benign Het
Rfc1 A G 5: 65,434,706 (GRCm39) Y687H probably damaging Het
Rimbp2 T C 5: 128,883,423 (GRCm39) K119R probably damaging Het
Rnf113a1 T C X: 36,455,046 (GRCm39) M1T probably null Het
Rnf40 A C 7: 127,195,506 (GRCm39) K511Q possibly damaging Het
Ryr2 T A 13: 11,800,029 (GRCm39) probably null Het
Scrib A T 15: 75,937,011 (GRCm39) V365E probably damaging Het
Slc6a17 A G 3: 107,379,443 (GRCm39) V575A possibly damaging Het
Spta1 A G 1: 174,067,732 (GRCm39) N2053S possibly damaging Het
Ssbp2 G A 13: 91,790,511 (GRCm39) probably null Het
Stab1 G T 14: 30,882,456 (GRCm39) N460K probably benign Het
Tbc1d9 T A 8: 83,992,787 (GRCm39) C964S probably benign Het
Tmed11 A G 5: 108,927,680 (GRCm39) probably null Het
Tmem191 C A 16: 17,095,984 (GRCm39) R285S probably damaging Het
Tpr T C 1: 150,312,552 (GRCm39) S1917P probably benign Het
Vill A T 9: 118,892,440 (GRCm39) H357L probably benign Het
Vmn1r229 A G 17: 21,035,051 (GRCm39) T99A probably benign Het
Vmn2r14 A G 5: 109,369,283 (GRCm39) S97P probably damaging Het
Wasf2 G T 4: 132,917,483 (GRCm39) R194L unknown Het
Other mutations in Psd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Psd4 APN 2 24,284,298 (GRCm39) missense probably benign 0.25
IGL01302:Psd4 APN 2 24,286,799 (GRCm39) critical splice donor site probably null
IGL01446:Psd4 APN 2 24,295,407 (GRCm39) missense probably damaging 1.00
IGL01577:Psd4 APN 2 24,293,234 (GRCm39) missense probably damaging 0.96
IGL01823:Psd4 APN 2 24,284,444 (GRCm39) missense probably benign 0.27
IGL02103:Psd4 APN 2 24,290,540 (GRCm39) nonsense probably null
IGL02212:Psd4 APN 2 24,295,326 (GRCm39) nonsense probably null
IGL02240:Psd4 APN 2 24,286,389 (GRCm39) missense probably benign 0.00
IGL02261:Psd4 APN 2 24,291,756 (GRCm39) missense probably damaging 1.00
IGL02345:Psd4 APN 2 24,291,835 (GRCm39) critical splice donor site probably null
IGL03272:Psd4 APN 2 24,295,692 (GRCm39) splice site probably benign
bitcoin UTSW 2 24,291,569 (GRCm39) missense probably damaging 1.00
crypto UTSW 2 24,287,259 (GRCm39) missense probably benign
Ethereum UTSW 2 24,296,996 (GRCm39) missense probably damaging 1.00
underworld UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
PIT4469001:Psd4 UTSW 2 24,284,306 (GRCm39) missense probably benign 0.08
R0131:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0131:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0132:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0278:Psd4 UTSW 2 24,284,450 (GRCm39) missense probably damaging 1.00
R1303:Psd4 UTSW 2 24,285,030 (GRCm39) missense probably benign 0.00
R1715:Psd4 UTSW 2 24,295,344 (GRCm39) missense probably damaging 1.00
R1854:Psd4 UTSW 2 24,287,468 (GRCm39) missense probably benign 0.26
R1942:Psd4 UTSW 2 24,295,805 (GRCm39) missense probably damaging 1.00
R2392:Psd4 UTSW 2 24,284,679 (GRCm39) missense probably damaging 0.98
R2420:Psd4 UTSW 2 24,291,253 (GRCm39) missense probably damaging 1.00
R4509:Psd4 UTSW 2 24,286,347 (GRCm39) missense probably benign
R4512:Psd4 UTSW 2 24,292,901 (GRCm39) missense probably damaging 1.00
R4558:Psd4 UTSW 2 24,294,806 (GRCm39) missense probably damaging 1.00
R4995:Psd4 UTSW 2 24,287,259 (GRCm39) missense probably benign
R5120:Psd4 UTSW 2 24,295,450 (GRCm39) missense probably benign
R5314:Psd4 UTSW 2 24,290,528 (GRCm39) missense possibly damaging 0.89
R5563:Psd4 UTSW 2 24,284,897 (GRCm39) missense probably benign
R5638:Psd4 UTSW 2 24,287,427 (GRCm39) missense probably benign 0.14
R6191:Psd4 UTSW 2 24,284,499 (GRCm39) missense probably damaging 1.00
R6224:Psd4 UTSW 2 24,291,569 (GRCm39) missense probably damaging 1.00
R7024:Psd4 UTSW 2 24,284,555 (GRCm39) missense possibly damaging 0.76
R7046:Psd4 UTSW 2 24,284,985 (GRCm39) missense probably benign 0.05
R7209:Psd4 UTSW 2 24,287,357 (GRCm39) missense probably damaging 1.00
R7483:Psd4 UTSW 2 24,294,768 (GRCm39) missense possibly damaging 0.65
R7498:Psd4 UTSW 2 24,296,996 (GRCm39) missense probably damaging 1.00
R7571:Psd4 UTSW 2 24,297,023 (GRCm39) missense probably damaging 1.00
R7741:Psd4 UTSW 2 24,291,108 (GRCm39) critical splice donor site probably null
R7978:Psd4 UTSW 2 24,294,867 (GRCm39) missense probably damaging 1.00
R8133:Psd4 UTSW 2 24,286,701 (GRCm39) missense probably benign
R8254:Psd4 UTSW 2 24,293,223 (GRCm39) missense probably damaging 0.99
R8786:Psd4 UTSW 2 24,295,444 (GRCm39) missense probably benign 0.08
R8797:Psd4 UTSW 2 24,287,440 (GRCm39) missense probably benign 0.02
R9015:Psd4 UTSW 2 24,287,492 (GRCm39) missense
R9413:Psd4 UTSW 2 24,287,472 (GRCm39) missense probably benign 0.39
X0009:Psd4 UTSW 2 24,291,537 (GRCm39) missense probably damaging 1.00
X0064:Psd4 UTSW 2 24,294,750 (GRCm39) missense probably damaging 0.99
Z1177:Psd4 UTSW 2 24,284,943 (GRCm39) frame shift probably null
Z1177:Psd4 UTSW 2 24,284,924 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCCGCAGTGAGAAGCTCGAATG -3'
(R):5'- TCCAGGAAAGAAACACAGGTTGCTC -3'

Sequencing Primer
(F):5'- AGGGGTCTACATAGTTCTGCATC -3'
(R):5'- GAAACACAGGTTGCTCGTTCTTC -3'
Posted On 2014-04-13