Incidental Mutation 'R4893:Map7d1'
ID 377386
Institutional Source Beutler Lab
Gene Symbol Map7d1
Ensembl Gene ENSMUSG00000028849
Gene Name MAP7 domain containing 1
Synonyms Parcc1, Mtap7d1, Rprc1
MMRRC Submission 042498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126125960-126150112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126127015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 732 (D732N)
Ref Sequence ENSEMBL: ENSMUSP00000113250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061143] [ENSMUST00000106132] [ENSMUST00000122129]
AlphaFold A2AJI0
Predicted Effect unknown
Transcript: ENSMUST00000061143
AA Change: D764N
SMART Domains Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: D764N

DomainStartEndE-ValueType
low complexity region 25 47 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
coiled coil region 163 224 N/A INTRINSIC
low complexity region 323 343 N/A INTRINSIC
coiled coil region 414 444 N/A INTRINSIC
low complexity region 460 471 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
low complexity region 533 558 N/A INTRINSIC
Pfam:MAP7 587 735 7.1e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000106132
AA Change: D692N
SMART Domains Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: D692N

DomainStartEndE-ValueType
low complexity region 25 47 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
coiled coil region 163 224 N/A INTRINSIC
coiled coil region 342 372 N/A INTRINSIC
low complexity region 388 399 N/A INTRINSIC
low complexity region 408 425 N/A INTRINSIC
low complexity region 461 486 N/A INTRINSIC
Pfam:MAP7 510 668 1.4e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000122129
AA Change: D732N
SMART Domains Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: D732N

DomainStartEndE-ValueType
low complexity region 25 47 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
coiled coil region 163 224 N/A INTRINSIC
coiled coil region 382 412 N/A INTRINSIC
low complexity region 428 439 N/A INTRINSIC
low complexity region 448 465 N/A INTRINSIC
low complexity region 501 526 N/A INTRINSIC
Pfam:MAP7 550 708 1.5e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125981
AA Change: D508N
SMART Domains Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
AA Change: D508N

DomainStartEndE-ValueType
low complexity region 68 88 N/A INTRINSIC
coiled coil region 158 188 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 225 242 N/A INTRINSIC
low complexity region 278 303 N/A INTRINSIC
Pfam:MAP7 332 480 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137382
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Akap5 T C 12: 76,376,743 (GRCm39) V718A probably damaging Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Antxr2 T A 5: 98,151,931 (GRCm39) D180V probably damaging Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Muc20 T C 16: 32,615,042 (GRCm39) T112A possibly damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Pnpla7 T A 2: 24,943,688 (GRCm39) Y1314* probably null Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G possibly damaging Het
Other mutations in Map7d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Map7d1 APN 4 126,132,398 (GRCm39) missense probably damaging 1.00
IGL02298:Map7d1 APN 4 126,127,714 (GRCm39) missense unknown
R0136:Map7d1 UTSW 4 126,130,424 (GRCm39) critical splice donor site probably null
R0362:Map7d1 UTSW 4 126,128,787 (GRCm39) missense probably damaging 1.00
R1138:Map7d1 UTSW 4 126,135,912 (GRCm39) missense possibly damaging 0.82
R1499:Map7d1 UTSW 4 126,128,558 (GRCm39) critical splice donor site probably null
R1692:Map7d1 UTSW 4 126,136,101 (GRCm39) missense probably damaging 0.99
R3805:Map7d1 UTSW 4 126,131,084 (GRCm39) splice site probably null
R4369:Map7d1 UTSW 4 126,128,866 (GRCm39) missense probably damaging 0.99
R4814:Map7d1 UTSW 4 126,128,114 (GRCm39) critical splice donor site probably null
R4898:Map7d1 UTSW 4 126,127,018 (GRCm39) missense unknown
R4911:Map7d1 UTSW 4 126,130,484 (GRCm39) missense probably damaging 1.00
R4949:Map7d1 UTSW 4 126,128,846 (GRCm39) nonsense probably null
R5189:Map7d1 UTSW 4 126,136,097 (GRCm39) splice site probably null
R6198:Map7d1 UTSW 4 126,135,636 (GRCm39) missense probably damaging 1.00
R6336:Map7d1 UTSW 4 126,130,475 (GRCm39) missense probably damaging 1.00
R6558:Map7d1 UTSW 4 126,126,702 (GRCm39) missense unknown
R6781:Map7d1 UTSW 4 126,134,544 (GRCm39) frame shift probably null
R7177:Map7d1 UTSW 4 126,130,778 (GRCm39) missense probably damaging 1.00
R7204:Map7d1 UTSW 4 126,149,808 (GRCm39) critical splice donor site probably null
R7269:Map7d1 UTSW 4 126,126,666 (GRCm39) missense unknown
R7486:Map7d1 UTSW 4 126,128,179 (GRCm39) missense unknown
R7560:Map7d1 UTSW 4 126,130,429 (GRCm39) missense probably damaging 1.00
R8266:Map7d1 UTSW 4 126,132,353 (GRCm39) missense probably damaging 1.00
R8750:Map7d1 UTSW 4 126,132,315 (GRCm39) missense probably benign 0.19
R8963:Map7d1 UTSW 4 126,130,475 (GRCm39) missense probably damaging 1.00
R9036:Map7d1 UTSW 4 126,133,911 (GRCm39) missense probably damaging 1.00
R9158:Map7d1 UTSW 4 126,130,478 (GRCm39) missense possibly damaging 0.92
R9307:Map7d1 UTSW 4 126,128,024 (GRCm39) missense unknown
R9374:Map7d1 UTSW 4 126,127,429 (GRCm39) missense unknown
R9710:Map7d1 UTSW 4 126,127,440 (GRCm39) critical splice acceptor site probably null
Z1177:Map7d1 UTSW 4 126,128,170 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTTCTTGAGGAAGGCTTCTGC -3'
(R):5'- ACCGCAGCTAACAATTCCGG -3'

Sequencing Primer
(F):5'- TGCCTCTGCAAATGGGAG -3'
(R):5'- ATTCCGGCCCAGGTAAAGC -3'
Posted On 2016-03-17