Incidental Mutation 'R7876:C87436'
ID 628680
Institutional Source Beutler Lab
Gene Symbol C87436
Ensembl Gene ENSMUSG00000046679
Gene Name expressed sequence C87436
Synonyms
MMRRC Submission 045928-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R7876 (G1)
Quality Score 206.009
Status Validated
Chromosome 6
Chromosomal Location 86415356-86450482 bp(+) (GRCm39)
Type of Mutation splice site (161 bp from exon)
DNA Base Change (assembly) T to A at 86423411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109330 (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 null
Transcript: ENSMUST00000050497
SMART Domains Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1.1e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113698
SMART Domains Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1e-22 PFAM
low complexity region 278 290 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113700
SMART Domains Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 1.3e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133753
SMART Domains Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141972
SMART Domains Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,439 (GRCm39) K65R probably benign Het
Adprhl1 T C 8: 13,273,509 (GRCm39) D1083G probably benign Het
Aox1 C T 1: 58,101,330 (GRCm39) Q434* probably null Het
Atp13a5 T A 16: 29,140,566 (GRCm39) N330I possibly damaging Het
Brd8 A G 18: 34,739,740 (GRCm39) F678L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1h A T 17: 25,594,225 (GRCm39) I2311K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cux1 T C 5: 136,392,161 (GRCm39) T187A probably benign Het
Dip2b A G 15: 100,088,922 (GRCm39) I1031V probably benign Het
Efna5 T C 17: 62,957,929 (GRCm39) N109S possibly damaging Het
Fat2 A T 11: 55,202,046 (GRCm39) S343T probably benign Het
Fubp1 T C 3: 151,937,928 (GRCm39) Y654H unknown Het
Gbe1 G A 16: 70,238,059 (GRCm39) V282I probably benign Het
Grik1 T C 16: 87,720,121 (GRCm39) K719E Het
Grm6 A T 11: 50,750,457 (GRCm39) Y540F probably damaging Het
Hmcn1 C T 1: 150,620,722 (GRCm39) V1163I probably benign Het
Igkv4-53 T A 6: 69,625,987 (GRCm39) Q60L possibly damaging Het
Igkv4-59 A T 6: 69,415,337 (GRCm39) S73T probably damaging Het
Il1a A C 2: 129,142,762 (GRCm39) W228G probably damaging Het
Klk13 A G 7: 43,370,403 (GRCm39) D22G probably benign Het
Kntc1 T A 5: 123,913,850 (GRCm39) C602S probably damaging Het
Kras T C 6: 145,170,848 (GRCm39) K176E probably benign Het
Krtap5-4 G A 7: 141,857,585 (GRCm39) C85Y unknown Het
Map3k13 A G 16: 21,741,069 (GRCm39) T799A probably benign Het
Mfhas1 T C 8: 36,056,697 (GRCm39) Y391H probably damaging Het
Morf4l1 G A 9: 89,975,859 (GRCm39) A311V possibly damaging Het
Ms4a8a T A 19: 11,056,848 (GRCm39) Q78L probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nav3 T C 10: 109,689,359 (GRCm39) N306S probably benign Het
Ncapd3 T C 9: 26,956,519 (GRCm39) probably null Het
Nrg2 T A 18: 36,330,140 (GRCm39) Y25F unknown Het
Nup153 C T 13: 46,835,084 (GRCm39) S1407N probably benign Het
Or2c1 T A 16: 3,656,658 (GRCm39) probably null Het
Or4c99 A G 2: 88,329,999 (GRCm39) Y190C probably damaging Het
Or5b123 A G 19: 13,596,628 (GRCm39) Y34C probably damaging Het
Pcf11 A C 7: 92,310,534 (GRCm39) S485A probably damaging Het
Pde8a A G 7: 80,973,819 (GRCm39) D592G probably damaging Het
Perm1 G A 4: 156,302,046 (GRCm39) G197R probably damaging Het
Pigo A T 4: 43,020,671 (GRCm39) M757K probably benign Het
Pls1 G A 9: 95,667,558 (GRCm39) Q117* probably null Het
Plscr2 T C 9: 92,169,781 (GRCm39) V77A probably benign Het
Polm T C 11: 5,781,695 (GRCm39) E267G probably benign Het
Pomgnt1 A T 4: 116,015,106 (GRCm39) K519M probably damaging Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rhbdd3 C T 11: 5,055,832 (GRCm39) T338I possibly damaging Het
Rnf31 T C 14: 55,830,534 (GRCm39) probably null Het
Slc51a A T 16: 32,297,601 (GRCm39) S99T probably benign Het
Sorbs1 A T 19: 40,285,032 (GRCm39) L700H probably damaging Het
Tdrd7 G A 4: 46,025,684 (GRCm39) V835I probably benign Het
Tmcc3 T C 10: 94,414,397 (GRCm39) V64A probably benign Het
Tmprss5 A G 9: 49,020,391 (GRCm39) S140G probably benign Het
Tspan11 G T 6: 127,900,629 (GRCm39) V67F possibly damaging Het
Usp42 T C 5: 143,707,426 (GRCm39) T252A probably damaging Het
Vmn2r97 A T 17: 19,149,326 (GRCm39) E238V probably damaging Het
Wdpcp T A 11: 21,661,486 (GRCm39) W253R probably benign Het
Zdhhc23 A T 16: 43,789,663 (GRCm39) V375E probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zmym1 A T 4: 126,941,496 (GRCm39) M964K 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
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
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
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'- TCGATGCCAGTGGTATGTGG -3'
(R):5'- AAAGGATAGACCAATTGCTTGAAA -3'

Sequencing Primer
(F):5'- CCAGTGGTATGTGGAGATTGACAG -3'
(R):5'- GATTAAAGGCTTGCACCACTGCTG -3'
Posted On 2020-06-09