Incidental Mutation 'R5982:C87436'
ID 481447
Institutional Source Beutler Lab
Gene Symbol C87436
Ensembl Gene ENSMUSG00000046679
Gene Name expressed sequence C87436
Synonyms
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R5982 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86415356-86450482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86422957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 177 (T177K)
Ref Sequence ENSEMBL: ENSMUSP00000115916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972] [ENSMUST00000203568] [ENSMUST00000204137]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050497
AA Change: T177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: T177K

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1.1e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113698
AA Change: T177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: T177K

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1e-22 PFAM
low complexity region 278 290 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113700
AA Change: T177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: T177K

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 1.3e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000133753
AA Change: T177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: T177K

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141972
AA Change: T177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: T177K

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203568
SMART Domains Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204137
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in C87436
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:C87436 APN 6 86,434,837 (GRCm39) missense probably damaging 1.00
IGL01596:C87436 APN 6 86,423,201 (GRCm39) missense probably damaging 1.00
IGL02039:C87436 APN 6 86,430,677 (GRCm39) missense probably benign 0.40
IGL02798:C87436 APN 6 86,423,184 (GRCm39) missense probably benign 0.01
R0008:C87436 UTSW 6 86,423,265 (GRCm39) unclassified probably benign
R0128:C87436 UTSW 6 86,446,809 (GRCm39) missense probably damaging 1.00
R0445:C87436 UTSW 6 86,426,832 (GRCm39) missense possibly damaging 0.77
R0970:C87436 UTSW 6 86,424,310 (GRCm39) missense probably damaging 0.99
R1125:C87436 UTSW 6 86,424,344 (GRCm39) missense probably benign 0.00
R1310:C87436 UTSW 6 86,422,432 (GRCm39) missense possibly damaging 0.78
R1640:C87436 UTSW 6 86,423,233 (GRCm39) missense probably damaging 0.99
R1764:C87436 UTSW 6 86,430,594 (GRCm39) missense possibly damaging 0.92
R2213:C87436 UTSW 6 86,422,455 (GRCm39) missense probably benign 0.04
R2275:C87436 UTSW 6 86,422,582 (GRCm39) missense probably damaging 1.00
R3947:C87436 UTSW 6 86,423,168 (GRCm39) missense probably damaging 1.00
R5416:C87436 UTSW 6 86,442,832 (GRCm39) missense probably damaging 1.00
R5604:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R6171:C87436 UTSW 6 86,422,449 (GRCm39) missense probably benign 0.04
R6744:C87436 UTSW 6 86,423,046 (GRCm39) missense probably damaging 1.00
R7215:C87436 UTSW 6 86,439,662 (GRCm39) missense possibly damaging 0.80
R7253:C87436 UTSW 6 86,442,790 (GRCm39) missense probably damaging 1.00
R7876:C87436 UTSW 6 86,423,411 (GRCm39) splice site probably null
R8035:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R8312:C87436 UTSW 6 86,434,813 (GRCm39) missense probably damaging 1.00
R8919:C87436 UTSW 6 86,422,774 (GRCm39) missense probably damaging 1.00
R9091:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
R9099:C87436 UTSW 6 86,439,567 (GRCm39) missense probably damaging 1.00
R9208:C87436 UTSW 6 86,423,227 (GRCm39) missense probably benign 0.16
R9270:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTTGAAAGCTGCCACTCAAGG -3'
(R):5'- ATGTCTCATCGCTGGCAAAG -3'

Sequencing Primer
(F):5'- GCATTGTGGAAAACCAGTGTC -3'
(R):5'- AAATGGATGCACTTTGGGGC -3'
Posted On 2017-06-26