Incidental Mutation 'R6881:Cmip'
ID 536669
Institutional Source Beutler Lab
Gene Symbol Cmip
Ensembl Gene ENSMUSG00000034390
Gene Name c-Maf inducing protein
Synonyms 5830471E12Rik, 4933407C03Rik
MMRRC Submission 045030-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6881 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 117983803-118186169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118163334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 355 (I355T)
Ref Sequence ENSEMBL: ENSMUSP00000130264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095172] [ENSMUST00000166750]
AlphaFold Q9D486
Predicted Effect possibly damaging
Transcript: ENSMUST00000095172
AA Change: I267T

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092795
Gene: ENSMUSG00000034390
AA Change: I267T

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 possibly damaging
Transcript: ENSMUST00000166750
AA Change: I355T

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130264
Gene: ENSMUSG00000034390
AA Change: I355T

DomainStartEndE-ValueType
PH 54 163 2.71e-1 SMART
low complexity region 394 407 N/A INTRINSIC
SCOP:d1a9na_ 652 769 6e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A C 9: 15,202,061 (GRCm39) C187G possibly damaging Het
Abhd16a C T 17: 35,315,577 (GRCm39) T208I probably benign Het
Ahcyl1 A T 3: 107,575,425 (GRCm39) H425Q probably damaging Het
Ankrd22 T A 19: 34,126,782 (GRCm39) N16I probably damaging Het
Cc2d2b A G 19: 40,813,483 (GRCm39) E1321G probably damaging Het
Ccdc7b A G 8: 129,799,028 (GRCm39) E35G probably damaging Het
Chsy3 A G 18: 59,312,480 (GRCm39) I318V probably damaging Het
Clrn2 G A 5: 45,611,164 (GRCm39) W4* probably null Het
Cmya5 C T 13: 93,226,800 (GRCm39) V2763M probably damaging Het
Cnnm2 T C 19: 46,865,658 (GRCm39) S749P probably damaging Het
Cyp1a1 G T 9: 57,608,002 (GRCm39) R210L possibly damaging Het
Dmxl1 G A 18: 50,068,372 (GRCm39) S2715N probably benign Het
Dync1h1 T C 12: 110,590,995 (GRCm39) L1021P probably damaging Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Galnt11 G T 5: 25,455,097 (GRCm39) K144N possibly damaging Het
Gm45861 A G 8: 28,025,279 (GRCm39) probably null Het
Kcnk18 T A 19: 59,208,390 (GRCm39) D75E probably benign Het
Kcnk2 C T 1: 188,942,187 (GRCm39) V346M probably benign Het
Klhl33 T A 14: 51,128,929 (GRCm39) M767L probably benign Het
Knl1 T C 2: 118,925,665 (GRCm39) I1898T possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lamp3 T C 16: 19,518,368 (GRCm39) T290A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Macf1 T A 4: 123,326,246 (GRCm39) I3521F probably damaging Het
Med12l T C 3: 59,174,586 (GRCm39) S1835P probably benign Het
Mef2c C A 13: 83,741,061 (GRCm39) N73K probably damaging Het
Mtmr3 T C 11: 4,439,725 (GRCm39) S572G probably benign Het
Neto2 A T 8: 86,367,185 (GRCm39) S520T probably damaging Het
Or10ak16 A G 4: 118,750,304 (GRCm39) N8S probably damaging Het
Or1o4 A G 17: 37,591,200 (GRCm39) L37S probably benign Het
Or4c110 A T 2: 88,832,281 (GRCm39) M117K probably damaging Het
P3h2 G A 16: 25,811,495 (GRCm39) R243C probably damaging Het
Pld1 T C 3: 28,132,563 (GRCm39) S584P possibly damaging Het
Prkcz T C 4: 155,353,513 (GRCm39) N278S possibly damaging Het
Radil A G 5: 142,472,672 (GRCm39) S913P probably benign Het
Retreg2 A C 1: 75,123,083 (GRCm39) Q337P probably damaging Het
Sh3gl3 A G 7: 81,956,178 (GRCm39) E305G possibly damaging Het
Shank1 G T 7: 44,001,217 (GRCm39) D979Y unknown Het
Slc35a5 A T 16: 44,964,443 (GRCm39) N263K possibly damaging Het
Slc4a7 A T 14: 14,737,452 (GRCm38) M127L probably benign Het
Slc8a2 G A 7: 15,891,282 (GRCm39) G774E probably damaging Het
Smim45 C A 15: 82,143,786 (GRCm39) H3N possibly damaging Het
Snap91 A G 9: 86,655,646 (GRCm39) S847P possibly damaging Het
Stoml1 T C 9: 58,168,177 (GRCm39) L296P probably damaging Het
Tap1 G T 17: 34,407,008 (GRCm39) G52V probably damaging Het
Tent4b T C 8: 88,977,416 (GRCm39) V363A possibly damaging Het
Tnfrsf11b T C 15: 54,117,539 (GRCm39) R239G probably benign Het
Ttn T C 2: 76,536,846 (GRCm39) Y34993C probably damaging Het
Uchl1 T C 5: 66,841,065 (GRCm39) F165L probably damaging Het
Xrcc1 C T 7: 24,246,776 (GRCm39) Q15* probably null Het
Zkscan7 C G 9: 122,717,766 (GRCm39) Q54E possibly damaging 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
R2508:Cmip UTSW 8 118,163,432 (GRCm39) missense probably benign
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
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'- TCTCACCAATGGCCTTCTGG -3'
(R):5'- TCAATAAGGTTGGGCTCGCTG -3'

Sequencing Primer
(F):5'- TTGCTGTTCTGAGACAAGAGACCC -3'
(R):5'- CTGTCGTTGCCCGTGCTG -3'
Posted On 2018-10-18