Incidental Mutation 'R4931:Ankrd40'
ID 380580
Institutional Source Beutler Lab
Gene Symbol Ankrd40
Ensembl Gene ENSMUSG00000020864
Gene Name ankyrin repeat domain 40
Synonyms 5530600A18Rik, 1110011C06Rik, Gcap15
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94218827-94232667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94225647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 226 (L226Q)
Ref Sequence ENSEMBL: ENSMUSP00000103448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021227] [ENSMUST00000051221] [ENSMUST00000107818] [ENSMUST00000149867]
AlphaFold Q5SUE8
Predicted Effect probably benign
Transcript: ENSMUST00000021227
AA Change: L226Q

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864
AA Change: L226Q

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051221
AA Change: L226Q

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864
AA Change: L226Q

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107818
AA Change: L226Q

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864
AA Change: L226Q

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124087
Predicted Effect probably benign
Transcript: ENSMUST00000149867
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Ankrd40
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1patch:Ankrd40 UTSW 11 94,225,641 (GRCm39) missense probably benign 0.01
R0621:Ankrd40 UTSW 11 94,230,433 (GRCm39) splice site probably null
R2873:Ankrd40 UTSW 11 94,224,771 (GRCm39) missense possibly damaging 0.62
R4817:Ankrd40 UTSW 11 94,230,459 (GRCm39) missense probably benign 0.00
R5026:Ankrd40 UTSW 11 94,230,550 (GRCm39) unclassified probably benign
R5504:Ankrd40 UTSW 11 94,219,153 (GRCm39) missense probably benign 0.31
R5891:Ankrd40 UTSW 11 94,225,689 (GRCm39) missense probably damaging 1.00
R6089:Ankrd40 UTSW 11 94,224,751 (GRCm39) missense probably damaging 1.00
R6725:Ankrd40 UTSW 11 94,225,641 (GRCm39) missense probably benign 0.01
R7789:Ankrd40 UTSW 11 94,225,535 (GRCm39) missense probably damaging 1.00
R8179:Ankrd40 UTSW 11 94,225,541 (GRCm39) missense probably benign 0.00
R8376:Ankrd40 UTSW 11 94,225,662 (GRCm39) missense probably damaging 1.00
R8378:Ankrd40 UTSW 11 94,225,662 (GRCm39) missense probably damaging 1.00
R8419:Ankrd40 UTSW 11 94,225,662 (GRCm39) missense probably damaging 1.00
R8421:Ankrd40 UTSW 11 94,225,662 (GRCm39) missense probably damaging 1.00
R9090:Ankrd40 UTSW 11 94,225,262 (GRCm39) missense probably benign 0.05
R9264:Ankrd40 UTSW 11 94,229,187 (GRCm39) missense probably damaging 1.00
R9271:Ankrd40 UTSW 11 94,225,262 (GRCm39) missense probably benign 0.05
R9731:Ankrd40 UTSW 11 94,229,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGATAGCTCACCTCCATTGC -3'
(R):5'- TAGACAGATCTTGGAACTTTTCCC -3'

Sequencing Primer
(F):5'- ACAGAAACCCCTTTGCTAGG -3'
(R):5'- CTAAACATCACTCTCCTGCT -3'
Posted On 2016-04-15