Incidental Mutation 'IGL02104:Scd4'
ID 279868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scd4
Ensembl Gene ENSMUSG00000050195
Gene Name stearoyl-coenzyme A desaturase 4
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02104
Quality Score
Status
Chromosome 19
Chromosomal Location 44321765-44335182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44333186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 304 (V304F)
Ref Sequence ENSEMBL: ENSMUSP00000059860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058856]
AlphaFold Q6T707
Predicted Effect possibly damaging
Transcript: ENSMUST00000058856
AA Change: V304F

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: V304F

DomainStartEndE-ValueType
transmembrane domain 65 87 N/A INTRINSIC
Pfam:FA_desaturase 91 311 7e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L probably benign Het
Other mutations in Scd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02824:Scd4 APN 19 44,329,698 (GRCm39) missense probably damaging 1.00
crisco UTSW 19 44,327,510 (GRCm39) missense probably benign 0.24
IGL03098:Scd4 UTSW 19 44,321,931 (GRCm39) start codon destroyed possibly damaging 0.92
R0576:Scd4 UTSW 19 44,329,685 (GRCm39) missense probably benign 0.00
R0655:Scd4 UTSW 19 44,327,407 (GRCm39) missense possibly damaging 0.52
R1792:Scd4 UTSW 19 44,326,013 (GRCm39) nonsense probably null
R1925:Scd4 UTSW 19 44,329,823 (GRCm39) missense probably damaging 0.99
R1995:Scd4 UTSW 19 44,322,617 (GRCm39) missense possibly damaging 0.93
R5018:Scd4 UTSW 19 44,326,048 (GRCm39) missense probably benign 0.09
R5815:Scd4 UTSW 19 44,326,003 (GRCm39) missense probably damaging 1.00
R6036:Scd4 UTSW 19 44,333,231 (GRCm39) missense probably damaging 0.98
R6036:Scd4 UTSW 19 44,333,231 (GRCm39) missense probably damaging 0.98
R6264:Scd4 UTSW 19 44,327,398 (GRCm39) nonsense probably null
R6946:Scd4 UTSW 19 44,321,953 (GRCm39) missense probably null 0.82
R7661:Scd4 UTSW 19 44,327,510 (GRCm39) missense probably benign 0.24
R7957:Scd4 UTSW 19 44,329,687 (GRCm39) missense probably benign 0.00
R8112:Scd4 UTSW 19 44,325,945 (GRCm39) missense probably benign 0.00
R8226:Scd4 UTSW 19 44,322,572 (GRCm39) missense probably benign 0.00
R9752:Scd4 UTSW 19 44,322,475 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16