Incidental Mutation 'IGL02195:Spring1'
ID 284021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spring1
Ensembl Gene ENSMUSG00000032840
Gene Name SREBF pathway regulator in golgi 1
Synonyms 2410131K14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02195
Quality Score
Status
Chromosome 5
Chromosomal Location 118383292-118401179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118397462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 148 (L148P)
Ref Sequence ENSEMBL: ENSMUSP00000043410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049138]
AlphaFold Q8BTG6
Predicted Effect probably damaging
Transcript: ENSMUST00000049138
AA Change: L148P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043410
Gene: ENSMUSG00000032840
AA Change: L148P

DomainStartEndE-ValueType
transmembrane domain 17 35 N/A INTRINSIC
Pfam:DUF2054 70 195 2e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep G T 7: 79,476,433 (GRCm39) A65D probably damaging Het
Birc6 C T 17: 75,004,376 (GRCm39) probably benign Het
Car11 G T 7: 45,350,716 (GRCm39) V71L probably damaging Het
Cecr2 A G 6: 120,708,367 (GRCm39) Y123C probably damaging Het
Dnm2 G A 9: 21,336,545 (GRCm39) V52M probably damaging Het
Fbxo21 T A 5: 118,140,219 (GRCm39) C560S probably damaging Het
Gatb A T 3: 85,511,755 (GRCm39) Y170F probably benign Het
Ighv1-54 A T 12: 115,157,570 (GRCm39) S26T possibly damaging Het
Ints8 A T 4: 11,221,222 (GRCm39) W718R probably damaging Het
Iqgap2 T A 13: 95,798,242 (GRCm39) probably benign Het
Kif4 T C X: 99,769,822 (GRCm39) F1154S probably damaging Het
Klhl18 A G 9: 110,267,970 (GRCm39) C253R possibly damaging Het
Lilra6 T C 7: 3,917,549 (GRCm39) S149G probably benign Het
Lonrf1 G A 8: 36,687,102 (GRCm39) R745* probably null Het
Manea A C 4: 26,340,628 (GRCm39) Y111* probably null Het
Map2k1 A G 9: 64,101,090 (GRCm39) I196T probably benign Het
Matn4 T C 2: 164,242,972 (GRCm39) D42G probably damaging Het
Meioc C A 11: 102,565,683 (GRCm39) T433K possibly damaging Het
Mtmr7 A G 8: 41,013,946 (GRCm39) V204A probably damaging Het
Nus1 A G 10: 52,309,465 (GRCm39) D91G probably damaging Het
Or8a1b A G 9: 37,623,417 (GRCm39) S53P probably benign Het
Pisd A G 5: 32,894,659 (GRCm39) L549P probably damaging Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Prdm15 A G 16: 97,637,029 (GRCm39) V96A probably damaging Het
Prune2 C A 19: 17,096,921 (GRCm39) D808E probably benign Het
Sema5b G A 16: 35,480,849 (GRCm39) probably null Het
Shank3 A T 15: 89,432,321 (GRCm39) Q947L probably damaging Het
Sned1 A G 1: 93,201,882 (GRCm39) E616G probably benign Het
Snx18 T C 13: 113,753,376 (GRCm39) H519R probably damaging Het
Syde2 A G 3: 145,707,911 (GRCm39) T617A probably damaging Het
Tmem139 G T 6: 42,240,901 (GRCm39) R162L probably damaging Het
Trim72 A T 7: 127,607,136 (GRCm39) M222L probably damaging Het
Other mutations in Spring1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Spring1 APN 5 118,397,160 (GRCm39) missense probably benign 0.00
R0454:Spring1 UTSW 5 118,393,886 (GRCm39) missense possibly damaging 0.89
R0606:Spring1 UTSW 5 118,397,154 (GRCm39) missense probably damaging 1.00
R4628:Spring1 UTSW 5 118,397,479 (GRCm39) missense probably damaging 1.00
R5874:Spring1 UTSW 5 118,397,504 (GRCm39) missense probably damaging 0.99
R6030:Spring1 UTSW 5 118,393,798 (GRCm39) missense probably damaging 0.98
R6030:Spring1 UTSW 5 118,393,798 (GRCm39) missense probably damaging 0.98
R6563:Spring1 UTSW 5 118,397,047 (GRCm39) missense possibly damaging 0.94
R7148:Spring1 UTSW 5 118,393,759 (GRCm39) missense probably benign 0.00
R9621:Spring1 UTSW 5 118,393,880 (GRCm39) missense possibly damaging 0.77
Posted On 2015-04-16