Incidental Mutation 'R2888:Malrd1'
ID 259982
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 040476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2888 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 15531290-16260366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16079568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1762 (I1762F)
Ref Sequence ENSEMBL: ENSMUSP00000116869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146205]
AlphaFold A2AJX4
Predicted Effect unknown
Transcript: ENSMUST00000146205
AA Change: I1762F
SMART Domains Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: I1762F

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik A T X: 77,414,288 (GRCm39) I338F probably damaging Het
Acd A G 8: 106,425,470 (GRCm39) S288P probably benign Het
Aimp2 T C 5: 143,846,553 (GRCm39) probably benign Het
Atp8b2 T C 3: 89,865,600 (GRCm39) D100G probably damaging Het
Cacna1i A T 15: 80,258,968 (GRCm39) I1226F probably damaging Het
Dsp C A 13: 38,376,224 (GRCm39) N1336K possibly damaging Het
Extl2 T C 3: 115,820,906 (GRCm39) F251S probably damaging Het
Gusb T C 5: 130,029,343 (GRCm39) H146R probably damaging Het
Itpr2 C T 6: 146,072,791 (GRCm39) G2380S probably damaging Het
Kansl1l T C 1: 66,763,764 (GRCm39) K762E probably benign Het
Krtap4-9 C A 11: 99,676,245 (GRCm39) C55* probably null Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Llcfc1 A T 6: 41,661,537 (GRCm39) K29M probably damaging Het
Muc5b G A 7: 141,415,291 (GRCm39) V2746M probably damaging Het
Mug1 T A 6: 121,858,802 (GRCm39) D1173E probably benign Het
Myo5b G C 18: 74,895,689 (GRCm39) E1782Q probably damaging Het
Or2t46 T C 11: 58,471,988 (GRCm39) F106S possibly damaging Het
Pcdha5 A G 18: 37,094,940 (GRCm39) D483G probably damaging Het
Phex T C X: 156,093,954 (GRCm39) I439V probably benign Het
Pkd1l1 T A 11: 8,897,251 (GRCm39) S103C probably damaging Het
Plekha4 C T 7: 45,187,668 (GRCm39) R176C probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Pramel23 G T 4: 143,423,460 (GRCm39) T443K probably benign Het
Prol1 C A 5: 88,476,168 (GRCm39) A186E unknown Het
Rbm39 C T 2: 156,009,503 (GRCm39) R123H probably benign Het
Rtn4 T C 11: 29,643,687 (GRCm39) S167P probably damaging Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Smoc2 T C 17: 14,617,887 (GRCm39) probably null Het
Sptbn2 A G 19: 4,798,664 (GRCm39) T1998A possibly damaging Het
Tbc1d5 T A 17: 51,242,577 (GRCm39) E173D probably damaging Het
Tsc2 A G 17: 24,850,969 (GRCm39) probably null Het
Umps A T 16: 33,784,240 (GRCm39) V71E probably damaging Het
Vmn2r13 T C 5: 109,339,840 (GRCm39) D45G possibly damaging Het
Wdfy4 C A 14: 32,831,476 (GRCm39) E917* probably null Het
Zfhx2 T C 14: 55,302,260 (GRCm39) K1908R possibly damaging Het
Zfp511 A C 7: 139,619,295 (GRCm39) D204A 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
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
R8888:Malrd1 UTSW 2 15,850,038 (GRCm39) missense unknown
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'- TCTGGATAATTAGGGGTGCCAG -3'
(R):5'- CAGCCCCAGTAAGAGATGAG -3'

Sequencing Primer
(F):5'- TAATTAGGGGTGCCAGAGAGG -3'
(R):5'- AATGAGGGTACTTTGGCAGC -3'
Posted On 2015-01-23