Incidental Mutation 'R8356:Zdhhc13'
ID 645777
Institutional Source Beutler Lab
Gene Symbol Zdhhc13
Ensembl Gene ENSMUSG00000030471
Gene Name zinc finger, DHHC domain containing 13
Synonyms Hip14l, kojak, skc4, 2410004E01Rik
MMRRC Submission 067870-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 48438751-48477188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48452747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 153 (I153N)
Ref Sequence ENSEMBL: ENSMUSP00000112498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118927] [ENSMUST00000125280]
AlphaFold Q9CWU2
Predicted Effect probably damaging
Transcript: ENSMUST00000118927
AA Change: I153N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: I153N

DomainStartEndE-ValueType
Blast:ANK 48 77 1e-9 BLAST
ANK 81 110 3.08e-1 SMART
ANK 115 144 4.39e-6 SMART
ANK 148 177 2.37e-2 SMART
ANK 181 211 5.19e2 SMART
ANK 216 245 8.07e-5 SMART
ANK 249 277 1.09e3 SMART
transmembrane domain 292 310 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 344 366 N/A INTRINSIC
transmembrane domain 373 392 N/A INTRINSIC
Pfam:zf-DHHC 421 558 1.1e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125280
AA Change: I23N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: I23N

DomainStartEndE-ValueType
ANK 18 47 2.37e-2 SMART
ANK 51 81 5.19e2 SMART
ANK 86 115 8.07e-5 SMART
ANK 119 147 1.09e3 SMART
transmembrane domain 160 182 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
Pfam:zf-DHHC 258 428 1.1e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,842,360 (GRCm39) E1098G probably benign Het
Akap1 T A 11: 88,725,557 (GRCm39) probably null Het
Arhgap26 T C 18: 39,244,901 (GRCm39) V182A possibly damaging Het
Arhgef19 A G 4: 140,977,926 (GRCm39) K545R probably benign Het
Asph C T 4: 9,537,722 (GRCm39) R352Q probably benign Het
B3glct T A 5: 149,650,254 (GRCm39) I119N probably damaging Het
Bltp3b A G 10: 89,647,954 (GRCm39) T1339A probably benign Het
Camsap3 C T 8: 3,650,679 (GRCm39) R236* probably null Het
Ccser2 A T 14: 36,612,331 (GRCm39) M792K probably benign Het
Ceacam5 C T 7: 17,479,624 (GRCm39) T247I possibly damaging Het
Dnah9 A G 11: 66,047,764 (GRCm39) S19P probably damaging Het
Dtwd1 A G 2: 126,000,451 (GRCm39) E129G probably damaging Het
Ebf3 T A 7: 136,800,916 (GRCm39) M490L probably benign Het
Erbb4 A G 1: 68,110,789 (GRCm39) L1008S probably damaging Het
Ereg C T 5: 91,237,993 (GRCm39) P160S possibly damaging Het
Exoc6b ATTT ATTTT 6: 84,821,077 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,385 (GRCm39) T362A unknown Het
Gm14326 A T 2: 177,590,312 (GRCm39) D16E probably benign Het
H1f8 A T 6: 115,925,745 (GRCm39) M181L probably benign Het
H3c1 A T 13: 23,946,083 (GRCm39) F85Y probably damaging Het
Herc6 A T 6: 57,575,548 (GRCm39) T190S probably benign Het
Lama1 T G 17: 68,044,491 (GRCm39) I130S Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Map3k9 T C 12: 81,780,892 (GRCm39) I423V probably damaging Het
Melk T A 4: 44,312,191 (GRCm39) C168S possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Naa16 A T 14: 79,596,915 (GRCm39) N356K probably benign Het
Nup214 A G 2: 31,929,372 (GRCm39) N1873S probably benign Het
Or2y1f C T 11: 49,184,385 (GRCm39) P79L probably damaging Het
Or8b41 T A 9: 38,054,981 (GRCm39) C178* probably null Het
Pom121 A G 5: 135,410,032 (GRCm39) F1042L unknown Het
Pramel51 T A 12: 88,143,986 (GRCm39) T284S probably benign Het
Pxdn T C 12: 30,061,889 (GRCm39) S1334P probably damaging Het
Ranbp1 C T 16: 18,063,170 (GRCm39) E69K probably damaging Het
Rasl11a T C 5: 146,782,045 (GRCm39) S7P probably damaging Het
Rev1 G A 1: 38,098,324 (GRCm39) R740* probably null Het
Rnf157 C T 11: 116,240,246 (GRCm39) V443M probably benign Het
Scn3a T A 2: 65,291,017 (GRCm39) T1910S probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Siah2 T C 3: 58,583,503 (GRCm39) N261S probably benign Het
Sumf2 T G 5: 129,889,003 (GRCm39) W264G possibly damaging Het
Tal1 G T 4: 114,920,625 (GRCm39) A100S probably benign Het
Tox2 G T 2: 163,046,550 (GRCm39) R9L unknown Het
Traj46 A G 14: 54,409,795 (GRCm39) E1G Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Usp21 A T 1: 171,112,290 (GRCm39) F308I probably damaging Het
Vgf A T 5: 137,061,265 (GRCm39) I476F probably damaging Het
Vmn1r142 T A 7: 21,862,748 (GRCm39) H238L probably benign Het
Vps35 G A 8: 85,987,934 (GRCm39) T739I possibly damaging Het
Wdr95 G T 5: 149,502,572 (GRCm39) C279F probably damaging Het
Zbtb32 T C 7: 30,289,381 (GRCm39) S94G unknown Het
Other mutations in Zdhhc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Zdhhc13 APN 7 48,455,349 (GRCm39) missense probably benign 0.00
IGL01820:Zdhhc13 APN 7 48,458,613 (GRCm39) missense probably damaging 1.00
IGL02941:Zdhhc13 APN 7 48,466,886 (GRCm39) splice site probably benign
bernard UTSW 7 48,476,621 (GRCm39) missense probably damaging 1.00
brindle UTSW 7 48,474,479 (GRCm39) missense possibly damaging 0.47
oxidized UTSW 7 48,466,175 (GRCm39) missense probably benign 0.04
rusty UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
zephiro UTSW 7 48,461,103 (GRCm39) nonsense probably null
PIT4445001:Zdhhc13 UTSW 7 48,445,697 (GRCm39) missense probably benign 0.00
R0456:Zdhhc13 UTSW 7 48,458,602 (GRCm39) missense probably benign 0.03
R1398:Zdhhc13 UTSW 7 48,476,621 (GRCm39) missense probably damaging 1.00
R1785:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R1786:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2066:Zdhhc13 UTSW 7 48,466,175 (GRCm39) missense probably benign 0.04
R2131:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2133:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2405:Zdhhc13 UTSW 7 48,472,478 (GRCm39) splice site probably null
R3770:Zdhhc13 UTSW 7 48,452,692 (GRCm39) missense probably damaging 1.00
R4374:Zdhhc13 UTSW 7 48,458,589 (GRCm39) missense probably damaging 1.00
R4772:Zdhhc13 UTSW 7 48,449,621 (GRCm39) missense probably benign 0.24
R5052:Zdhhc13 UTSW 7 48,474,479 (GRCm39) missense possibly damaging 0.47
R5455:Zdhhc13 UTSW 7 48,455,323 (GRCm39) missense possibly damaging 0.95
R6418:Zdhhc13 UTSW 7 48,461,149 (GRCm39) missense possibly damaging 0.94
R6502:Zdhhc13 UTSW 7 48,465,308 (GRCm39) missense possibly damaging 0.95
R7136:Zdhhc13 UTSW 7 48,451,080 (GRCm39) missense probably benign
R7467:Zdhhc13 UTSW 7 48,454,156 (GRCm39) missense probably benign 0.02
R7485:Zdhhc13 UTSW 7 48,461,103 (GRCm39) nonsense probably null
R7723:Zdhhc13 UTSW 7 48,458,567 (GRCm39) missense probably benign
R8297:Zdhhc13 UTSW 7 48,465,257 (GRCm39) missense probably damaging 0.96
R8385:Zdhhc13 UTSW 7 48,455,444 (GRCm39) critical splice donor site probably null
R8456:Zdhhc13 UTSW 7 48,452,747 (GRCm39) missense probably damaging 1.00
R9346:Zdhhc13 UTSW 7 48,472,328 (GRCm39) missense probably benign 0.18
R9397:Zdhhc13 UTSW 7 48,476,628 (GRCm39) missense probably benign
X0021:Zdhhc13 UTSW 7 48,454,963 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GACGTTATTTTGTCCAGCCAG -3'
(R):5'- AGTTCCGAGTATCTGGATAGCC -3'

Sequencing Primer
(F):5'- AGAATCCCTCATGCCTTAGAGGG -3'
(R):5'- CCGAGTATCTGGATAGCCATTAACTC -3'
Posted On 2020-09-02