Incidental Mutation 'R2508:Cmip'
ID 251552
Institutional Source Beutler Lab
Gene Symbol Cmip
Ensembl Gene ENSMUSG00000034390
Gene Name c-Maf inducing protein
Synonyms 5830471E12Rik, 4933407C03Rik
MMRRC Submission 040414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2508 (G1)
Quality Score 195
Status Not validated
Chromosome 8
Chromosomal Location 117983803-118186169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118163432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 388 (S388T)
Ref Sequence ENSEMBL: ENSMUSP00000130264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095172] [ENSMUST00000166750]
AlphaFold Q9D486
Predicted Effect probably benign
Transcript: ENSMUST00000095172
AA Change: S300T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092795
Gene: ENSMUSG00000034390
AA Change: S300T

DomainStartEndE-ValueType
Blast:PH 13 70 5e-33 BLAST
low complexity region 71 79 N/A INTRINSIC
low complexity region 306 319 N/A INTRINSIC
SCOP:d1a9na_ 564 681 6e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166750
AA Change: S388T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130264
Gene: ENSMUSG00000034390
AA Change: S388T

DomainStartEndE-ValueType
PH 54 163 2.71e-1 SMART
low complexity region 394 407 N/A INTRINSIC
SCOP:d1a9na_ 652 769 6e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212884
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,872,132 (GRCm39) T20I probably benign Het
Adamts2 C T 11: 50,679,516 (GRCm39) T832I possibly damaging Het
Agbl1 G A 7: 76,239,298 (GRCm39) probably null Het
Ankrd61 T C 5: 143,833,894 (GRCm39) probably benign Het
Anpep T G 7: 79,488,039 (GRCm39) Y506S possibly damaging Het
Aox1 T A 1: 58,382,832 (GRCm39) H1037Q probably benign Het
Auh G A 13: 53,052,755 (GRCm39) R47* probably null Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh3 T C 8: 107,279,039 (GRCm39) L667P probably damaging Het
Cenpe A T 3: 134,946,834 (GRCm39) R1116S possibly damaging Het
Ces1b T A 8: 93,799,969 (GRCm39) M136L possibly damaging Het
Cfap54 T C 10: 92,833,236 (GRCm39) E1130G possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clu T C 14: 66,212,452 (GRCm39) V135A probably damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Crym T C 7: 119,801,050 (GRCm39) N33S probably benign Het
Ctcf T A 8: 106,398,016 (GRCm39) V434E probably damaging Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dcaf13 A G 15: 39,008,547 (GRCm39) Y383C probably benign Het
Dock2 T C 11: 34,262,485 (GRCm39) T957A probably benign Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Eif1ad16 T C 12: 87,985,258 (GRCm39) Y95C probably damaging Het
Fads3 A G 19: 10,033,818 (GRCm39) Y401C probably damaging Het
Fam72a T C 1: 131,456,592 (GRCm39) probably null Het
Fbxw21 C A 9: 108,974,553 (GRCm39) K322N probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Glb1l T C 1: 75,178,473 (GRCm39) T322A probably damaging Het
Gm6871 T A 7: 41,197,414 (GRCm39) T149S probably benign Het
Gpr26 C T 7: 131,568,823 (GRCm39) T56I probably damaging Het
Grik4 C A 9: 42,533,438 (GRCm39) G361C probably damaging Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Igsf5 T A 16: 96,165,247 (GRCm39) D7E probably benign Het
Inpp5e T A 2: 26,289,355 (GRCm39) I522F probably damaging Het
Insm2 C A 12: 55,647,096 (GRCm39) T280K probably benign Het
Itih4 T C 14: 30,617,435 (GRCm39) V585A probably damaging Het
Katnip T A 7: 125,394,515 (GRCm39) V197D probably benign Het
Knl1 A T 2: 118,888,849 (GRCm39) R17* probably null Het
Lag3 G T 6: 124,888,272 (GRCm39) L15I possibly damaging Het
Lepr T A 4: 101,648,093 (GRCm39) S861T probably damaging Het
Mcur1 A T 13: 43,697,941 (GRCm39) Y320N probably damaging Het
Mgam A T 6: 40,736,717 (GRCm39) D872V probably damaging Het
Mlycd T C 8: 120,134,446 (GRCm39) probably null Het
Mpl C A 4: 118,312,954 (GRCm39) C193F probably damaging Het
Mycbp2 C A 14: 103,368,681 (GRCm39) A4142S probably damaging Het
Myh1 T A 11: 67,104,424 (GRCm39) D993E possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Neb T C 2: 52,085,533 (GRCm39) I1521V probably benign Het
Notch1 A G 2: 26,355,485 (GRCm39) V1744A possibly damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4p20 T C 2: 88,253,800 (GRCm39) T190A possibly damaging Het
Or6c66 T A 10: 129,461,784 (GRCm39) I49L probably benign Het
Or8k23 A G 2: 86,186,708 (GRCm39) L6P possibly damaging Het
Otogl A G 10: 107,710,361 (GRCm39) L576P probably damaging Het
P2ry1 C T 3: 60,910,900 (GRCm39) T13M probably damaging Het
Pak6 A T 2: 118,525,050 (GRCm39) R559* probably null Het
Parvb A T 15: 84,182,171 (GRCm39) M234L probably benign Het
Pcdha11 T C 18: 37,145,907 (GRCm39) V666A possibly damaging Het
Pde3b T A 7: 114,126,092 (GRCm39) Y775* probably null Het
Pgam5 A G 5: 110,413,869 (GRCm39) L98P probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkib T G 10: 57,604,205 (GRCm39) D4E probably damaging Het
Plcb1 A T 2: 135,102,428 (GRCm39) I202F probably benign Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Prdm1 T A 10: 44,322,803 (GRCm39) T249S probably benign Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rassf2 A T 2: 131,840,163 (GRCm39) probably null Het
Rnf185 A G 11: 3,368,067 (GRCm39) Y204H probably benign Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Scn11a T A 9: 119,594,595 (GRCm39) Y1266F probably damaging Het
Senp7 T A 16: 55,971,725 (GRCm39) H287Q probably benign Het
Sgsm3 T C 15: 80,888,073 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,658 (GRCm39) V104E possibly damaging Het
Slc25a13 G A 6: 6,117,190 (GRCm39) T175I probably benign Het
Slc26a3 T A 12: 31,520,902 (GRCm39) F702Y probably damaging Het
Smco2 T A 6: 146,761,465 (GRCm39) L184H probably damaging Het
Ssc4d A T 5: 135,994,461 (GRCm39) C90S probably damaging Het
Sspo T C 6: 48,441,298 (GRCm39) S1835P probably damaging Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Syngr1 C T 15: 79,995,941 (GRCm39) T160M probably damaging Het
Tent2 A G 13: 93,320,726 (GRCm39) L109S probably damaging Het
Tgfb1i1 A G 7: 127,848,085 (GRCm39) probably null Het
Thoc1 T A 18: 9,977,947 (GRCm39) V296E probably damaging Het
Timp2 C T 11: 118,201,412 (GRCm39) C75Y probably damaging Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tprn G A 2: 25,158,940 (GRCm39) E655K possibly damaging Het
Trbv14 A C 6: 41,112,424 (GRCm39) I74L probably benign Het
Trbv5 T A 6: 41,039,555 (GRCm39) Y53* probably null Het
Trpm5 T C 7: 142,642,656 (GRCm39) Q97R possibly damaging Het
Tut1 A G 19: 8,932,931 (GRCm39) D88G probably damaging Het
Ucp2 A T 7: 100,147,620 (GRCm39) I200F probably benign Het
Unc45a G A 7: 79,988,623 (GRCm39) S131L probably benign Het
Uty A T Y: 1,158,182 (GRCm39) H573Q probably damaging Het
Vmn1r17 T A 6: 57,337,855 (GRCm39) Y121F possibly damaging Het
Vmn1r53 T C 6: 90,200,554 (GRCm39) I257V probably benign Het
Vmn2r90 C T 17: 17,954,229 (GRCm39) L798F probably damaging Het
Vmn2r94 A T 17: 18,477,736 (GRCm39) M225K probably benign Het
Wdr24 A T 17: 26,043,273 (GRCm39) I32F possibly damaging Het
Zc3h11a T A 1: 133,552,521 (GRCm39) T529S probably benign Het
Zc3h4 A G 7: 16,168,264 (GRCm39) H791R unknown Het
Zfp24 A G 18: 24,150,927 (GRCm39) L73P probably damaging Het
Zfp616 T C 11: 73,974,121 (GRCm39) I130T probably benign Het
Zim1 ACAGCAG ACAGCAGCAG 7: 6,680,429 (GRCm39) probably benign Het
Zim1 CAG CAGAAG 7: 6,680,430 (GRCm39) probably benign Het
Other mutations in Cmip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Cmip APN 8 118,172,067 (GRCm39) missense probably benign 0.29
IGL02126:Cmip APN 8 118,175,770 (GRCm39) missense probably damaging 0.99
IGL02205:Cmip APN 8 118,181,714 (GRCm39) missense probably damaging 1.00
IGL02352:Cmip APN 8 118,137,994 (GRCm39) splice site probably benign
IGL02359:Cmip APN 8 118,137,994 (GRCm39) splice site probably benign
IGL02558:Cmip APN 8 118,175,827 (GRCm39) missense probably damaging 0.99
R0070:Cmip UTSW 8 118,153,293 (GRCm39) missense probably damaging 0.99
R0335:Cmip UTSW 8 118,172,105 (GRCm39) missense probably damaging 0.99
R1225:Cmip UTSW 8 118,172,110 (GRCm39) missense probably damaging 0.98
R1561:Cmip UTSW 8 118,180,589 (GRCm39) missense probably benign 0.41
R2885:Cmip UTSW 8 118,111,704 (GRCm39) missense probably benign 0.01
R3415:Cmip UTSW 8 118,076,116 (GRCm39) critical splice donor site probably null
R4024:Cmip UTSW 8 118,174,155 (GRCm39) missense possibly damaging 0.79
R4168:Cmip UTSW 8 118,183,656 (GRCm39) missense probably damaging 1.00
R4169:Cmip UTSW 8 118,183,656 (GRCm39) missense probably damaging 1.00
R4632:Cmip UTSW 8 118,174,150 (GRCm39) missense possibly damaging 0.88
R4706:Cmip UTSW 8 118,103,893 (GRCm39) missense probably damaging 0.99
R4924:Cmip UTSW 8 117,983,994 (GRCm39) missense probably benign 0.00
R5380:Cmip UTSW 8 118,149,629 (GRCm39) missense probably damaging 0.99
R5927:Cmip UTSW 8 117,984,048 (GRCm39) missense possibly damaging 0.85
R6212:Cmip UTSW 8 118,103,895 (GRCm39) missense probably damaging 1.00
R6310:Cmip UTSW 8 118,156,549 (GRCm39) missense possibly damaging 0.63
R6747:Cmip UTSW 8 118,163,618 (GRCm39) missense probably benign 0.02
R6881:Cmip UTSW 8 118,163,334 (GRCm39) missense possibly damaging 0.77
R6968:Cmip UTSW 8 118,103,895 (GRCm39) missense probably damaging 1.00
R7003:Cmip UTSW 8 118,111,727 (GRCm39) missense probably benign 0.13
R7400:Cmip UTSW 8 117,984,144 (GRCm39) splice site probably null
R7583:Cmip UTSW 8 118,181,691 (GRCm39) missense probably damaging 0.96
R8367:Cmip UTSW 8 118,163,610 (GRCm39) missense probably benign 0.05
R8720:Cmip UTSW 8 118,138,010 (GRCm39) missense probably damaging 1.00
R8807:Cmip UTSW 8 118,138,094 (GRCm39) missense probably benign 0.23
R8873:Cmip UTSW 8 118,103,929 (GRCm39) missense probably damaging 0.96
R8902:Cmip UTSW 8 118,103,925 (GRCm39) missense probably damaging 0.98
R8959:Cmip UTSW 8 118,138,054 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAACCGCACTCACACTTGG -3'
(R):5'- CTCACAGCAGCTTGAGGATCTC -3'

Sequencing Primer
(F):5'- GCACTCACACTTGGCCATTTC -3'
(R):5'- TTGAGGATCTCCACGTGGCAAC -3'
Posted On 2014-12-04