Incidental Mutation 'R6307:D630003M21Rik'
ID 509449
Institutional Source Beutler Lab
Gene Symbol D630003M21Rik
Ensembl Gene ENSMUSG00000037813
Gene Name RIKEN cDNA D630003M21 gene
Synonyms
MMRRC Submission 044412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6307 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 158024453-158071142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158057871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 536 (F536L)
Ref Sequence ENSEMBL: ENSMUSP00000040546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046944] [ENSMUST00000103121] [ENSMUST00000169335]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046944
AA Change: F536L

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: F536L

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 1e-6 BLAST
SCOP:d1aua_2 567 711 5e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1160 1174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103121
AA Change: F536L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: F536L

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 7e-7 BLAST
SCOP:d1aua_2 567 711 4e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1095 1106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169335
AA Change: F536L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: F536L

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 7e-7 BLAST
SCOP:d1aua_2 567 711 4e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1095 1106 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,843,221 (GRCm39) L1232P probably damaging Het
Akap6 A T 12: 53,188,351 (GRCm39) I1922F possibly damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arpc5 T C 1: 152,647,206 (GRCm39) V103A possibly damaging Het
Atp9a C A 2: 168,510,090 (GRCm39) V430F probably benign Het
Bod1 A G 11: 31,616,932 (GRCm39) S110P probably damaging Het
Cacna1c C A 6: 118,590,914 (GRCm39) V1453F probably damaging Het
Capn8 T A 1: 182,435,264 (GRCm39) M414K probably damaging Het
Cbl A T 9: 44,069,809 (GRCm39) probably null Het
Ccdc42 A T 11: 68,479,106 (GRCm39) Q98L probably damaging Het
Ccn3 T C 15: 54,611,421 (GRCm39) probably null Het
Cd200 C A 16: 45,217,545 (GRCm39) V49L probably benign Het
Celsr1 A G 15: 85,812,531 (GRCm39) S2060P probably benign Het
Ces1g A T 8: 94,057,820 (GRCm39) H160Q possibly damaging Het
Chrnb2 G T 3: 89,668,831 (GRCm39) H161Q probably damaging Het
Ctns G A 11: 73,082,559 (GRCm39) T57I probably benign Het
Cyp3a25 A T 5: 145,931,766 (GRCm39) M114K possibly damaging Het
Dcc C T 18: 71,943,826 (GRCm39) R275Q probably benign Het
Dmxl2 A T 9: 54,289,990 (GRCm39) H2508Q possibly damaging Het
Elf5 C A 2: 103,269,757 (GRCm39) Q113K probably damaging Het
Fam83a T G 15: 57,849,507 (GRCm39) V17G possibly damaging Het
Farsa T C 8: 85,587,674 (GRCm39) probably null Het
Fat2 G C 11: 55,172,106 (GRCm39) T2869S possibly damaging Het
Fgg A T 3: 82,920,283 (GRCm39) Q354L probably damaging Het
Folh1 T C 7: 86,372,517 (GRCm39) D679G probably damaging Het
Gbp4 T A 5: 105,270,975 (GRCm39) R83* probably null Het
Gm17482 T A 6: 115,204,311 (GRCm39) probably benign Het
Hmgxb4 T A 8: 75,749,927 (GRCm39) V481D possibly damaging Het
Ifi207 A C 1: 173,552,619 (GRCm39) Y926D probably damaging Het
Ikzf5 T A 7: 130,993,377 (GRCm39) N264Y probably damaging Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Krt33b A T 11: 99,915,694 (GRCm39) C351S probably benign Het
Lrp1 T C 10: 127,427,944 (GRCm39) D543G probably damaging Het
Lrrfip2 C T 9: 111,053,021 (GRCm39) R339W probably damaging Het
Mapk3 T G 7: 126,363,454 (GRCm39) M276R probably benign Het
Mgst1 T C 6: 138,127,827 (GRCm39) V137A probably benign Het
Muc16 T C 9: 18,558,884 (GRCm39) T2470A unknown Het
Muc4 C T 16: 32,575,237 (GRCm39) S1274F possibly damaging Het
Myo5c A C 9: 75,180,198 (GRCm39) K713T possibly damaging Het
Myzap T C 9: 71,466,146 (GRCm39) D170G possibly damaging Het
Naa50 T C 16: 43,979,831 (GRCm39) V113A probably damaging Het
Neu3 T C 7: 99,462,929 (GRCm39) T265A probably benign Het
Nin T C 12: 70,061,631 (GRCm39) T2078A possibly damaging Het
Nomo1 G A 7: 45,683,260 (GRCm39) probably benign Het
Nprl3 A G 11: 32,189,828 (GRCm39) L273P probably damaging Het
Oaf T A 9: 43,136,216 (GRCm39) H120L possibly damaging Het
Or10s1 T C 9: 39,985,824 (GRCm39) S78P probably damaging Het
Or13p4 C T 4: 118,547,145 (GRCm39) R168H probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k21 T C 2: 86,145,468 (GRCm39) H54R probably benign Het
Pcdhga3 T A 18: 37,809,674 (GRCm39) probably benign Het
Polq G A 16: 36,837,718 (GRCm39) probably null Het
Prdm8 C T 5: 98,333,162 (GRCm39) P243L possibly damaging Het
Prim2 T C 1: 33,701,373 (GRCm39) D138G probably benign Het
Prl2c5 A G 13: 13,365,175 (GRCm39) E107G probably benign Het
Prr14l T A 5: 32,984,869 (GRCm39) H1542L probably damaging Het
Rab26 T C 17: 24,749,072 (GRCm39) E203G probably damaging Het
Rtkn2 A T 10: 67,871,662 (GRCm39) H350L possibly damaging Het
Scara3 T C 14: 66,175,710 (GRCm39) D19G probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Sdcbp A G 4: 6,385,059 (GRCm39) M93V probably benign Het
Sema6a C A 18: 47,382,231 (GRCm39) R772L probably damaging Het
Slc5a7 T C 17: 54,584,006 (GRCm39) K428R probably benign Het
Sptbn2 G A 19: 4,774,674 (GRCm39) G109D probably damaging Het
Tmppe T C 9: 114,233,812 (GRCm39) L37P probably benign Het
Tuba1a T C 15: 98,849,410 (GRCm39) T56A probably benign Het
Tut4 T A 4: 108,412,817 (GRCm39) I1506N probably damaging Het
Vmn2r111 A G 17: 22,792,070 (GRCm39) I62T probably benign Het
Vmn2r73 A G 7: 85,506,828 (GRCm39) I828T probably damaging Het
Vmn2r79 T A 7: 86,686,976 (GRCm39) W786R probably damaging Het
Zp1 G A 19: 10,894,084 (GRCm39) T405M probably null Het
Other mutations in D630003M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:D630003M21Rik APN 2 158,055,332 (GRCm39) missense possibly damaging 0.92
IGL01447:D630003M21Rik APN 2 158,059,276 (GRCm39) missense probably benign
IGL01501:D630003M21Rik APN 2 158,042,987 (GRCm39) missense probably benign 0.03
IGL01874:D630003M21Rik APN 2 158,046,644 (GRCm39) missense probably damaging 1.00
IGL02116:D630003M21Rik APN 2 158,045,130 (GRCm39) missense possibly damaging 0.76
IGL02212:D630003M21Rik APN 2 158,052,091 (GRCm39) missense probably benign 0.02
IGL02477:D630003M21Rik APN 2 158,059,408 (GRCm39) missense probably benign 0.44
IGL02644:D630003M21Rik APN 2 158,058,730 (GRCm39) missense possibly damaging 0.87
IGL02861:D630003M21Rik APN 2 158,042,918 (GRCm39) missense probably benign 0.03
IGL02896:D630003M21Rik APN 2 158,059,205 (GRCm39) missense probably benign 0.00
IGL03089:D630003M21Rik APN 2 158,058,664 (GRCm39) missense probably benign
IGL03148:D630003M21Rik APN 2 158,059,144 (GRCm39) missense probably damaging 1.00
ANU05:D630003M21Rik UTSW 2 158,038,308 (GRCm39) missense probably benign 0.00
ANU18:D630003M21Rik UTSW 2 158,059,568 (GRCm39) missense probably benign
F5770:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
R0113:D630003M21Rik UTSW 2 158,038,495 (GRCm39) missense possibly damaging 0.92
R0147:D630003M21Rik UTSW 2 158,044,987 (GRCm39) splice site probably benign
R0513:D630003M21Rik UTSW 2 158,042,228 (GRCm39) missense probably benign 0.44
R0637:D630003M21Rik UTSW 2 158,037,327 (GRCm39) intron probably benign
R1594:D630003M21Rik UTSW 2 158,053,550 (GRCm39) missense probably damaging 1.00
R1774:D630003M21Rik UTSW 2 158,062,390 (GRCm39) missense probably damaging 1.00
R1823:D630003M21Rik UTSW 2 158,059,477 (GRCm39) missense probably damaging 1.00
R1864:D630003M21Rik UTSW 2 158,045,105 (GRCm39) missense probably damaging 1.00
R1983:D630003M21Rik UTSW 2 158,050,341 (GRCm39) missense probably benign 0.34
R2042:D630003M21Rik UTSW 2 158,057,769 (GRCm39) missense probably damaging 1.00
R2259:D630003M21Rik UTSW 2 158,046,631 (GRCm39) missense probably damaging 1.00
R2350:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably damaging 0.96
R3157:D630003M21Rik UTSW 2 158,037,392 (GRCm39) intron probably benign
R3937:D630003M21Rik UTSW 2 158,042,280 (GRCm39) missense probably damaging 1.00
R4124:D630003M21Rik UTSW 2 158,038,513 (GRCm39) missense probably damaging 0.97
R4437:D630003M21Rik UTSW 2 158,055,382 (GRCm39) missense probably damaging 1.00
R4473:D630003M21Rik UTSW 2 158,055,382 (GRCm39) missense probably damaging 1.00
R4513:D630003M21Rik UTSW 2 158,046,722 (GRCm39) missense probably benign 0.01
R4514:D630003M21Rik UTSW 2 158,046,722 (GRCm39) missense probably benign 0.01
R4729:D630003M21Rik UTSW 2 158,058,623 (GRCm39) missense probably damaging 1.00
R4794:D630003M21Rik UTSW 2 158,038,059 (GRCm39) missense probably benign
R4947:D630003M21Rik UTSW 2 158,028,116 (GRCm39) missense unknown
R5005:D630003M21Rik UTSW 2 158,053,563 (GRCm39) missense possibly damaging 0.87
R5022:D630003M21Rik UTSW 2 158,059,553 (GRCm39) missense probably damaging 0.99
R5167:D630003M21Rik UTSW 2 158,047,665 (GRCm39) missense probably damaging 1.00
R5191:D630003M21Rik UTSW 2 158,042,955 (GRCm39) missense probably benign 0.06
R5488:D630003M21Rik UTSW 2 158,058,941 (GRCm39) missense probably benign 0.15
R5489:D630003M21Rik UTSW 2 158,058,941 (GRCm39) missense probably benign 0.15
R5495:D630003M21Rik UTSW 2 158,062,431 (GRCm39) missense possibly damaging 0.69
R5708:D630003M21Rik UTSW 2 158,062,312 (GRCm39) splice site probably null
R5770:D630003M21Rik UTSW 2 158,037,500 (GRCm39) intron probably benign
R5789:D630003M21Rik UTSW 2 158,058,734 (GRCm39) missense possibly damaging 0.63
R5817:D630003M21Rik UTSW 2 158,038,413 (GRCm39) missense probably damaging 1.00
R5898:D630003M21Rik UTSW 2 158,046,577 (GRCm39) splice site probably null
R5969:D630003M21Rik UTSW 2 158,059,628 (GRCm39) missense probably damaging 1.00
R6084:D630003M21Rik UTSW 2 158,059,504 (GRCm39) missense probably damaging 0.99
R6111:D630003M21Rik UTSW 2 158,055,368 (GRCm39) missense probably damaging 1.00
R6225:D630003M21Rik UTSW 2 158,059,321 (GRCm39) missense probably benign 0.23
R6350:D630003M21Rik UTSW 2 158,062,415 (GRCm39) missense probably damaging 1.00
R6548:D630003M21Rik UTSW 2 158,047,619 (GRCm39) critical splice donor site probably null
R6583:D630003M21Rik UTSW 2 158,062,436 (GRCm39) missense probably damaging 0.98
R6821:D630003M21Rik UTSW 2 158,046,694 (GRCm39) missense probably damaging 1.00
R6963:D630003M21Rik UTSW 2 158,042,228 (GRCm39) missense probably benign 0.44
R7021:D630003M21Rik UTSW 2 158,058,670 (GRCm39) missense possibly damaging 0.59
R7210:D630003M21Rik UTSW 2 158,057,932 (GRCm39) critical splice acceptor site probably null
R7345:D630003M21Rik UTSW 2 158,059,129 (GRCm39) missense probably damaging 1.00
R7355:D630003M21Rik UTSW 2 158,042,144 (GRCm39) missense probably damaging 1.00
R7514:D630003M21Rik UTSW 2 158,059,273 (GRCm39) missense probably damaging 1.00
R7587:D630003M21Rik UTSW 2 158,042,976 (GRCm39) missense probably damaging 1.00
R7587:D630003M21Rik UTSW 2 158,038,308 (GRCm39) missense probably benign 0.00
R7713:D630003M21Rik UTSW 2 158,058,698 (GRCm39) nonsense probably null
R7792:D630003M21Rik UTSW 2 158,052,082 (GRCm39) missense possibly damaging 0.94
R7819:D630003M21Rik UTSW 2 158,058,718 (GRCm39) missense probably damaging 0.97
R7832:D630003M21Rik UTSW 2 158,059,588 (GRCm39) missense probably damaging 1.00
R8115:D630003M21Rik UTSW 2 158,058,510 (GRCm39) missense probably benign 0.23
R8482:D630003M21Rik UTSW 2 158,058,852 (GRCm39) missense probably benign 0.01
R8829:D630003M21Rik UTSW 2 158,058,856 (GRCm39) missense probably damaging 0.98
R8928:D630003M21Rik UTSW 2 158,059,447 (GRCm39) missense probably damaging 1.00
R9183:D630003M21Rik UTSW 2 158,059,112 (GRCm39) missense probably benign 0.00
R9254:D630003M21Rik UTSW 2 158,042,883 (GRCm39) missense probably damaging 1.00
R9661:D630003M21Rik UTSW 2 158,047,673 (GRCm39) missense possibly damaging 0.72
V7580:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
V7581:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
V7583:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GGGAATTTAGCAGCCTCCTG -3'
(R):5'- AGAGCAGATCACACTATAAGTTGTG -3'

Sequencing Primer
(F):5'- AATTTAGCAGCCTCCTGAGCCTC -3'
(R):5'- ACACTATAAGTTGTGTTGTCACTTGG -3'
Posted On 2018-04-02