Incidental Mutation 'R2275:C87436'
ID 242718
Institutional Source Beutler Lab
Gene Symbol C87436
Ensembl Gene ENSMUSG00000046679
Gene Name expressed sequence C87436
Synonyms
MMRRC Submission 040274-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R2275 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86415356-86450482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86422582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 52 (R52H)
Ref Sequence ENSEMBL: ENSMUSP00000144724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972] [ENSMUST00000203568] [ENSMUST00000204137]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050497
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1.1e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113698
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1e-22 PFAM
low complexity region 278 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113700
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 1.3e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133753
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141972
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203568
AA Change: R52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679
AA Change: R52H

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204137
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Aco2 C T 15: 81,779,465 (GRCm39) R57C probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Adgrb2 G A 4: 129,900,647 (GRCm39) G333D probably damaging Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
Atxn7 T A 14: 14,013,268 (GRCm38) M62K possibly damaging Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Cdh4 T C 2: 179,532,640 (GRCm39) S701P probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfap276 A G 3: 108,449,819 (GRCm39) N33D possibly damaging Het
Col12a1 A T 9: 79,542,709 (GRCm39) V2352E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csad G T 15: 102,095,557 (GRCm39) R167S probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Ehmt2 T A 17: 35,129,691 (GRCm39) N951K possibly damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Enpp2 A C 15: 54,761,190 (GRCm39) Y221D probably damaging Het
Exoc3l A T 8: 106,017,079 (GRCm39) probably null Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Faiml T C 9: 99,111,612 (GRCm39) Y149C probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Glg1 A T 8: 111,895,353 (GRCm39) Y819* probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gm28042 A C 2: 119,867,310 (GRCm39) Q465P probably damaging Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Knl1 C A 2: 118,902,762 (GRCm39) Q1488K probably damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mypn A G 10: 62,966,848 (GRCm39) F943L probably damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Ntrk2 T A 13: 59,009,165 (GRCm39) Y319N probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Parg A G 14: 32,017,195 (GRCm39) D384G probably damaging Het
Pde7b T A 10: 20,276,165 (GRCm39) *460L probably null Het
Pigr G T 1: 130,774,207 (GRCm39) V396L probably benign Het
Pkhd1 A G 1: 20,271,073 (GRCm39) I3160T possibly damaging Het
Ppl T C 16: 4,912,416 (GRCm39) S722G probably benign Het
Ppp1r26 A G 2: 28,342,713 (GRCm39) E781G possibly damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rusc2 G A 4: 43,416,260 (GRCm39) R522H probably damaging Het
Senp7 T C 16: 56,005,146 (GRCm39) S927P probably damaging Het
Serpinb6d A T 13: 33,855,411 (GRCm39) M362L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Slco4a1 T C 2: 180,106,529 (GRCm39) L237P possibly damaging Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Tia1 A G 6: 86,404,659 (GRCm39) N298S probably benign Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Ttc6 G A 12: 57,749,084 (GRCm39) V1339I probably benign Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r228 A G 17: 20,996,807 (GRCm39) L237P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r2 T C 3: 64,023,930 (GRCm39) R884G probably benign Het
Vmn2r60 T A 7: 41,786,251 (GRCm39) Y351* probably null Het
Zbtb7a G A 10: 80,980,831 (GRCm39) V342I possibly damaging Het
Zdhhc11 C A 13: 74,121,871 (GRCm39) N127K probably damaging 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
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
R5982:C87436 UTSW 6 86,422,957 (GRCm39) missense possibly damaging 0.87
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'- TTAGGGGCTGTGAACAATGG -3'
(R):5'- TTTTCCACAATGCCTTGAGTGG -3'

Sequencing Primer
(F):5'- GGCTGTGAACAATGGAACCAAACTC -3'
(R):5'- CTTGAGTGGCAGCTTTCAAACAC -3'
Posted On 2014-10-16