Incidental Mutation 'IGL02298:Map7d1'
ID290215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map7d1
Ensembl Gene ENSMUSG00000028849
Gene NameMAP7 domain containing 1
SynonymsMtap7d1, Parcc1, Rprc1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.781) question?
Stock #IGL02298
Quality Score
Status
Chromosome4
Chromosomal Location126232167-126256343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126233921 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 675 (E675G)
Ref Sequence ENSEMBL: ENSMUSP00000113250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061143] [ENSMUST00000106132] [ENSMUST00000122129]
Predicted Effect unknown
Transcript: ENSMUST00000061143
AA Change: E707G
SMART Domains Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: E707G

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: E635G
SMART Domains Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: E635G

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: E675G
SMART Domains Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: E675G

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: E451G
SMART Domains Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
AA Change: E451G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T A 6: 129,331,564 M1L probably benign Het
Ahctf1 A G 1: 179,752,479 S2053P probably benign Het
Alkbh2 C T 5: 114,125,572 E125K probably benign Het
Cd226 A T 18: 89,207,051 D24V probably damaging Het
Dync1h1 G A 12: 110,640,888 E2638K probably damaging Het
Fbxw5 G A 2: 25,504,444 W143* probably null Het
Galk2 T C 2: 125,859,370 S5P probably benign Het
Gm8890 T G 5: 11,257,191 L12R probably damaging Het
Gtf2h2 A G 13: 100,481,039 V205A probably damaging Het
Helb C A 10: 120,101,526 Q604H probably damaging Het
Ifih1 A G 2: 62,610,439 probably null Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Shc4 T C 2: 125,649,154 H488R probably damaging Het
Zfhx4 G A 3: 5,244,304 probably null Het
Zfp451 A T 1: 33,772,921 N904K probably damaging Het
Other mutations in Map7d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Map7d1 APN 4 126238605 missense probably damaging 1.00
R0136:Map7d1 UTSW 4 126236631 critical splice donor site probably null
R0362:Map7d1 UTSW 4 126234994 missense probably damaging 1.00
R1138:Map7d1 UTSW 4 126242119 missense possibly damaging 0.82
R1499:Map7d1 UTSW 4 126234765 critical splice donor site probably null
R1692:Map7d1 UTSW 4 126242308 missense probably damaging 0.99
R3805:Map7d1 UTSW 4 126237291 splice site probably null
R4369:Map7d1 UTSW 4 126235073 missense probably damaging 0.99
R4814:Map7d1 UTSW 4 126234321 critical splice donor site probably null
R4893:Map7d1 UTSW 4 126233222 missense unknown
R4898:Map7d1 UTSW 4 126233225 missense unknown
R4911:Map7d1 UTSW 4 126236691 missense probably damaging 1.00
R4949:Map7d1 UTSW 4 126235053 nonsense probably null
R5189:Map7d1 UTSW 4 126242304 unclassified probably null
R6198:Map7d1 UTSW 4 126241843 missense probably damaging 1.00
R6336:Map7d1 UTSW 4 126236682 missense probably damaging 1.00
R6558:Map7d1 UTSW 4 126232909 missense unknown
R6781:Map7d1 UTSW 4 126240751 frame shift probably null
R7177:Map7d1 UTSW 4 126236985 missense probably damaging 1.00
R7204:Map7d1 UTSW 4 126256015 critical splice donor site probably null
R7269:Map7d1 UTSW 4 126232873 missense unknown
R7486:Map7d1 UTSW 4 126234386 missense unknown
R7560:Map7d1 UTSW 4 126236636 missense probably damaging 1.00
R8266:Map7d1 UTSW 4 126238560 missense probably damaging 1.00
Z1177:Map7d1 UTSW 4 126234377 missense unknown
Posted On2015-04-16