Incidental Mutation 'R8888:Malrd1'
ID 677459
Institutional Source Beutler Lab
Gene Symbol Malrd1
Ensembl Gene ENSMUSG00000075520
Gene Name MAM and LDL receptor class A domain containing 1
Synonyms Gm13364, Gm13318, Diet1
MMRRC Submission 068692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R8888 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 15531290-16260366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15850038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1219 (N1219I)
Ref Sequence ENSEMBL: ENSMUSP00000116869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146205]
AlphaFold A2AJX4
Predicted Effect unknown
Transcript: ENSMUST00000146205
AA Change: N1219I
SMART Domains Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: N1219I

DomainStartEndE-ValueType
Pfam:MAM 8 171 1.6e-36 PFAM
LDLa 181 219 6.89e-8 SMART
LDLa 225 262 4.37e-10 SMART
LDLa 264 303 9.55e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 A G 4: 116,498,260 (GRCm39) L95P probably damaging Het
Amigo2 G T 15: 97,143,389 (GRCm39) N344K probably damaging Het
Ankrd11 T C 8: 123,621,014 (GRCm39) D946G possibly damaging Het
Ankrd12 T C 17: 66,338,568 (GRCm39) probably null Het
Atp8b5 A G 4: 43,304,687 (GRCm39) N66S Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Birc6 G A 17: 74,835,533 (GRCm39) S24N probably null Het
Bzw2 A T 12: 36,173,982 (GRCm39) C97* probably null Het
Capn12 T A 7: 28,585,949 (GRCm39) probably benign Het
Cdh1 T A 8: 107,330,971 (GRCm39) F34Y probably damaging Het
Cdh5 T C 8: 104,852,092 (GRCm39) I69T possibly damaging Het
Celsr2 G A 3: 108,320,880 (GRCm39) T644I possibly damaging Het
Cep85l A T 10: 53,224,911 (GRCm39) L226Q possibly damaging Het
Clasp2 T A 9: 113,732,936 (GRCm39) M924K possibly damaging Het
Col3a1 G A 1: 45,379,139 (GRCm39) A850T unknown Het
Cped1 C T 6: 22,016,962 (GRCm39) P104S possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2c69 T C 19: 39,869,910 (GRCm39) D104G possibly damaging Het
Daw1 T A 1: 83,187,011 (GRCm39) C274S probably damaging Het
Dmtn T C 14: 70,850,144 (GRCm39) T267A probably benign Het
Dock5 A G 14: 68,055,112 (GRCm39) Y585H possibly damaging Het
Dop1a A G 9: 86,403,587 (GRCm39) I132V probably benign Het
Dpysl5 C T 5: 30,902,687 (GRCm39) R40C probably benign Het
Dsg2 T G 18: 20,723,126 (GRCm39) V384G probably damaging Het
Elmo1 C T 13: 20,748,630 (GRCm39) L492F probably damaging Het
Epg5 C A 18: 78,056,086 (GRCm39) D1753E possibly damaging Het
Ext1 T C 15: 52,955,723 (GRCm39) Y458C probably damaging Het
Folr2 C T 7: 101,489,408 (GRCm39) V244M unknown Het
Frmd6 C A 12: 70,940,646 (GRCm39) H430Q possibly damaging Het
Galnt18 T C 7: 111,378,709 (GRCm39) I16V possibly damaging Het
Gm10036 C A 18: 15,966,207 (GRCm39) Y119* probably null Het
Gria4 A G 9: 4,664,951 (GRCm39) S102P probably damaging Het
Hc A T 2: 34,890,861 (GRCm39) N1318K probably benign Het
Htr2a C T 14: 74,882,617 (GRCm39) T201I possibly damaging Het
Ifitm1 T C 7: 140,549,499 (GRCm39) L94P probably damaging Het
Iqca1l T C 5: 24,755,628 (GRCm39) D298G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank4 C T 4: 98,653,747 (GRCm39) V894I possibly damaging Het
Kcnip2 T A 19: 45,785,100 (GRCm39) probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Lamb1 A G 12: 31,352,953 (GRCm39) T885A possibly damaging Het
Ldc1 T C 4: 130,105,223 (GRCm39) K316E probably benign Het
Lipi A T 16: 75,352,710 (GRCm39) L376I probably benign Het
Lrrc37 T A 11: 103,509,656 (GRCm39) T771S unknown Het
Mrc1 A C 2: 14,312,760 (GRCm39) N894T probably damaging Het
Mrpl35 C T 6: 71,793,271 (GRCm39) A127T possibly damaging Het
Naip2 T C 13: 100,325,644 (GRCm39) H88R probably benign Het
Nek5 C T 8: 22,580,495 (GRCm39) probably null Het
Nlrc5 G A 8: 95,252,118 (GRCm39) V1880I probably benign Het
Noc3l T A 19: 38,798,751 (GRCm39) K282N probably damaging Het
Nwd2 T C 5: 63,963,241 (GRCm39) Y942H probably damaging Het
Or10ag2 T C 2: 87,248,659 (GRCm39) V87A probably benign Het
Or4f62 G A 2: 111,986,974 (GRCm39) R226H probably benign Het
Or52d1 T A 7: 103,756,302 (GRCm39) I272N probably damaging Het
Osbpl9 C A 4: 108,930,333 (GRCm39) A221S probably benign Het
Paip1 T C 13: 119,566,801 (GRCm39) L45S probably benign Het
Pccb A T 9: 100,905,305 (GRCm39) probably benign Het
Pgap3 A G 11: 98,281,602 (GRCm39) F199L possibly damaging Het
Pik3c2g A T 6: 139,676,092 (GRCm39) K79* probably null Het
Pou3f1 C G 4: 124,552,152 (GRCm39) A218G possibly damaging Het
Ptk2b T A 14: 66,412,242 (GRCm39) N383I probably benign Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rdh7 A T 10: 127,724,430 (GRCm39) F18Y probably benign Het
Scart2 C T 7: 139,841,532 (GRCm39) P279S possibly damaging Het
Septin5 A G 16: 18,441,861 (GRCm39) M315T possibly damaging Het
Slc27a6 A G 18: 58,715,306 (GRCm39) Y303C probably damaging Het
Slc7a7 T A 14: 54,607,293 (GRCm39) M495L probably benign Het
Sntg1 T A 1: 8,748,074 (GRCm39) probably null Het
Spdye4a T G 5: 143,211,418 (GRCm39) S49R probably benign Het
Spred2 T A 11: 19,951,019 (GRCm39) I72N probably benign Het
Stox1 A T 10: 62,495,386 (GRCm39) H962Q probably benign Het
Susd2 G T 10: 75,475,452 (GRCm39) A484D possibly damaging Het
Syt14 A G 1: 192,579,866 (GRCm39) S473P probably damaging Het
Tpx2 T C 2: 152,724,255 (GRCm39) Y344H probably damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Ttf2 A T 3: 100,870,028 (GRCm39) F348L probably benign Het
Ttn A T 2: 76,663,650 (GRCm39) V11675E unknown Het
Usp2 G T 9: 43,986,894 (GRCm39) R64L probably benign Het
Other mutations in Malrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Malrd1 APN 2 16,146,997 (GRCm39) splice site probably benign
IGL01295:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01296:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01399:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01400:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01401:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01402:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01405:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL01406:Malrd1 APN 2 16,106,768 (GRCm39) critical splice donor site probably null
IGL02105:Malrd1 APN 2 16,132,674 (GRCm39) missense unknown
IGL02581:Malrd1 APN 2 16,147,123 (GRCm39) nonsense probably null
IGL03015:Malrd1 APN 2 16,047,082 (GRCm39) missense unknown
IGL03038:Malrd1 APN 2 16,132,778 (GRCm39) missense unknown
R1353:Malrd1 UTSW 2 16,132,779 (GRCm39) missense unknown
R1385:Malrd1 UTSW 2 16,047,039 (GRCm39) missense unknown
R2242:Malrd1 UTSW 2 16,106,755 (GRCm39) missense unknown
R2888:Malrd1 UTSW 2 16,079,568 (GRCm39) missense unknown
R4398:Malrd1 UTSW 2 16,155,594 (GRCm39) missense unknown
R4982:Malrd1 UTSW 2 16,046,940 (GRCm39) missense probably benign 0.29
R5148:Malrd1 UTSW 2 16,147,037 (GRCm39) missense unknown
R5195:Malrd1 UTSW 2 16,155,621 (GRCm39) missense unknown
R5828:Malrd1 UTSW 2 15,531,464 (GRCm39) missense probably benign 0.00
R5892:Malrd1 UTSW 2 15,619,078 (GRCm39) missense probably benign 0.03
R6034:Malrd1 UTSW 2 15,850,137 (GRCm39) missense possibly damaging 0.78
R6034:Malrd1 UTSW 2 15,850,137 (GRCm39) missense possibly damaging 0.78
R6195:Malrd1 UTSW 2 15,700,137 (GRCm39) missense probably damaging 1.00
R6318:Malrd1 UTSW 2 16,047,078 (GRCm39) missense unknown
R6438:Malrd1 UTSW 2 15,619,017 (GRCm39) missense
R6457:Malrd1 UTSW 2 15,672,740 (GRCm39) missense probably benign 0.41
R6457:Malrd1 UTSW 2 15,531,408 (GRCm39) start gained probably benign
R6499:Malrd1 UTSW 2 15,936,500 (GRCm39) missense probably benign 0.03
R6575:Malrd1 UTSW 2 15,847,439 (GRCm39) missense probably benign 0.00
R6792:Malrd1 UTSW 2 16,155,567 (GRCm39) missense unknown
R6796:Malrd1 UTSW 2 15,874,595 (GRCm39) missense unknown
R6930:Malrd1 UTSW 2 15,802,478 (GRCm39) missense unknown
R6959:Malrd1 UTSW 2 16,222,820 (GRCm39) missense probably damaging 0.97
R6993:Malrd1 UTSW 2 16,155,602 (GRCm39) missense unknown
R7102:Malrd1 UTSW 2 16,147,114 (GRCm39) missense unknown
R7112:Malrd1 UTSW 2 15,929,987 (GRCm39) missense unknown
R7248:Malrd1 UTSW 2 16,106,722 (GRCm39) missense unknown
R7249:Malrd1 UTSW 2 15,628,151 (GRCm39) missense probably damaging 0.97
R7334:Malrd1 UTSW 2 16,011,529 (GRCm39) missense probably damaging 0.99
R7394:Malrd1 UTSW 2 15,700,010 (GRCm39) missense unknown
R7399:Malrd1 UTSW 2 15,614,901 (GRCm39) missense
R7476:Malrd1 UTSW 2 16,147,115 (GRCm39) missense unknown
R7582:Malrd1 UTSW 2 15,700,081 (GRCm39) missense unknown
R7604:Malrd1 UTSW 2 15,930,003 (GRCm39) missense unknown
R7662:Malrd1 UTSW 2 15,876,265 (GRCm39) missense unknown
R7681:Malrd1 UTSW 2 16,222,913 (GRCm39) missense unknown
R7740:Malrd1 UTSW 2 15,619,026 (GRCm39) missense not run
R7747:Malrd1 UTSW 2 16,079,646 (GRCm39) missense unknown
R7754:Malrd1 UTSW 2 15,802,610 (GRCm39) splice site probably null
R7950:Malrd1 UTSW 2 16,132,879 (GRCm39) missense unknown
R8194:Malrd1 UTSW 2 15,929,931 (GRCm39) missense unknown
R8260:Malrd1 UTSW 2 15,619,017 (GRCm39) missense
R8314:Malrd1 UTSW 2 15,757,643 (GRCm39) missense unknown
R8342:Malrd1 UTSW 2 15,638,035 (GRCm39) missense unknown
R8386:Malrd1 UTSW 2 15,701,655 (GRCm39) missense unknown
R8492:Malrd1 UTSW 2 15,614,934 (GRCm39) missense
R8728:Malrd1 UTSW 2 15,701,753 (GRCm39) nonsense probably null
R8756:Malrd1 UTSW 2 15,757,706 (GRCm39) critical splice donor site probably null
R8869:Malrd1 UTSW 2 15,570,368 (GRCm39) critical splice donor site probably null
R8895:Malrd1 UTSW 2 15,850,038 (GRCm39) missense unknown
R8902:Malrd1 UTSW 2 16,260,145 (GRCm39) nonsense probably null
R8954:Malrd1 UTSW 2 15,556,178 (GRCm39) missense
R8960:Malrd1 UTSW 2 15,570,241 (GRCm39) nonsense probably null
R9005:Malrd1 UTSW 2 15,850,140 (GRCm39) missense unknown
R9135:Malrd1 UTSW 2 15,802,516 (GRCm39) missense unknown
R9267:Malrd1 UTSW 2 16,260,077 (GRCm39) missense unknown
R9330:Malrd1 UTSW 2 16,260,089 (GRCm39) missense unknown
R9359:Malrd1 UTSW 2 15,618,988 (GRCm39) missense
R9383:Malrd1 UTSW 2 15,700,012 (GRCm39) missense unknown
R9389:Malrd1 UTSW 2 15,707,967 (GRCm39) missense unknown
R9403:Malrd1 UTSW 2 15,618,988 (GRCm39) missense
R9454:Malrd1 UTSW 2 15,802,537 (GRCm39) nonsense probably null
R9454:Malrd1 UTSW 2 15,757,660 (GRCm39) missense unknown
R9520:Malrd1 UTSW 2 16,079,631 (GRCm39) missense unknown
R9544:Malrd1 UTSW 2 15,640,809 (GRCm39) missense unknown
R9609:Malrd1 UTSW 2 15,700,081 (GRCm39) missense unknown
R9667:Malrd1 UTSW 2 15,570,026 (GRCm39) critical splice acceptor site probably null
R9721:Malrd1 UTSW 2 15,701,638 (GRCm39) missense unknown
R9787:Malrd1 UTSW 2 15,625,401 (GRCm39) missense unknown
R9800:Malrd1 UTSW 2 15,847,405 (GRCm39) missense unknown
Z1176:Malrd1 UTSW 2 16,222,656 (GRCm39) missense unknown
Z1191:Malrd1 UTSW 2 16,047,037 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGGAGTCAAGCTAGACATTC -3'
(R):5'- GCTGCACCTACTACTGAGATTTATC -3'

Sequencing Primer
(F):5'- GAGTCAAGCTAGACATTCTTGATATG -3'
(R):5'- TCAATGATGAATGCCAAGTAAAGAGC -3'
Posted On 2021-08-02