Incidental Mutation 'R0565:Immt'
ID 46117
Institutional Source Beutler Lab
Gene Symbol Immt
Ensembl Gene ENSMUSG00000052337
Gene Name inner membrane protein, mitochondrial
Synonyms HMP, 1700082C19Rik, Micos60, D830041H16Rik, mitofilin, P87/89, P89, P87
MMRRC Submission 038756-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R0565 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71806200-71852250 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 71823467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064062] [ENSMUST00000101301] [ENSMUST00000114151] [ENSMUST00000165331] [ENSMUST00000166938] [ENSMUST00000166975] [ENSMUST00000207003] [ENSMUST00000171057]
AlphaFold Q8CAQ8
Predicted Effect probably benign
Transcript: ENSMUST00000064062
SMART Domains Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 745 5e-207 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101301
SMART Domains Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 734 3.9e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114151
SMART Domains Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 697 1.3e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165331
SMART Domains Protein: ENSMUSP00000128834
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 265 2.6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166938
SMART Domains Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 667 3.6e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166975
SMART Domains Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 467 1.1e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167244
Predicted Effect probably benign
Transcript: ENSMUST00000207003
Predicted Effect probably benign
Transcript: ENSMUST00000171057
SMART Domains Protein: ENSMUSP00000133017
Gene: ENSMUSG00000052337

DomainStartEndE-ValueType
Pfam:Mitofilin 40 188 4.8e-22 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,682,200 (GRCm39) H1010L probably benign Het
A2ml1 C A 6: 128,545,706 (GRCm39) E474* probably null Het
Agtr1b T C 3: 20,369,838 (GRCm39) H256R probably damaging Het
Amacr C T 15: 10,982,032 (GRCm39) A46V possibly damaging Het
Atosb A T 4: 43,034,647 (GRCm39) probably benign Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Caskin2 T C 11: 115,691,842 (GRCm39) E981G probably damaging Het
Ccdc88a A G 11: 29,411,042 (GRCm39) probably benign Het
Cd180 A G 13: 102,839,382 (GRCm39) probably benign Het
Cd200l1 T A 16: 45,264,536 (GRCm39) probably benign Het
Cemip G A 7: 83,613,318 (GRCm39) H627Y probably damaging Het
Cep131 G T 11: 119,964,588 (GRCm39) H289Q probably damaging Het
Cep350 G A 1: 155,836,941 (GRCm39) probably benign Het
Cfap52 A T 11: 67,840,425 (GRCm39) C169S probably benign Het
Cps1 A T 1: 67,205,608 (GRCm39) T544S possibly damaging Het
Cul7 T C 17: 46,962,929 (GRCm39) S187P probably damaging Het
Dhx40 C A 11: 86,661,993 (GRCm39) R688L probably damaging Het
E330034G19Rik C A 14: 24,356,985 (GRCm39) Q174K probably benign Het
Efna5 T C 17: 63,188,031 (GRCm39) Y32C probably damaging Het
Ethe1 A G 7: 24,307,314 (GRCm39) H176R probably benign Het
Exoc3 A G 13: 74,330,394 (GRCm39) probably null Het
Fam135b T A 15: 71,362,686 (GRCm39) N232Y possibly damaging Het
Fndc9 C T 11: 46,128,984 (GRCm39) L168F probably damaging Het
Fpr-rs3 G A 17: 20,844,283 (GRCm39) A286V probably damaging Het
Ipo7 T C 7: 109,648,800 (GRCm39) probably benign Het
Ipo8 A T 6: 148,688,221 (GRCm39) L747H probably damaging Het
Ireb2 A T 9: 54,807,267 (GRCm39) N610Y probably damaging Het
Irs2 A G 8: 11,054,592 (GRCm39) V1280A probably damaging Het
Kcnj3 T A 2: 55,485,276 (GRCm39) M458K probably benign Het
Kl A G 5: 150,904,409 (GRCm39) K387R possibly damaging Het
L3mbtl2 C A 15: 81,568,487 (GRCm39) probably benign Het
Lamb1 A C 12: 31,348,914 (GRCm39) I649L probably benign Het
Lipm A C 19: 34,093,906 (GRCm39) L274F probably benign Het
Lrfn3 A G 7: 30,060,216 (GRCm39) V3A probably benign Het
Lrrc8c A C 5: 105,754,894 (GRCm39) D223A probably damaging Het
Ltn1 C A 16: 87,212,898 (GRCm39) K554N probably benign Het
Mertk T C 2: 128,613,403 (GRCm39) I473T probably benign Het
Mfsd12 C A 10: 81,197,243 (GRCm39) N245K probably benign Het
Mmp16 A G 4: 17,987,705 (GRCm39) D89G probably damaging Het
Myo5a T A 9: 75,087,394 (GRCm39) N1083K probably benign Het
Ncapd3 C T 9: 26,999,294 (GRCm39) A1290V probably benign Het
Nefm A G 14: 68,362,070 (GRCm39) S65P probably damaging Het
Nt5c2 C T 19: 46,886,064 (GRCm39) R220H probably damaging Het
Or4c102 T A 2: 88,422,353 (GRCm39) D68E probably benign Het
Osbpl1a A T 18: 12,892,501 (GRCm39) S438R probably damaging Het
Pcdhb5 T C 18: 37,453,820 (GRCm39) S67P possibly damaging Het
Per3 A T 4: 151,118,409 (GRCm39) I228N probably damaging Het
Pnpla7 T G 2: 24,870,129 (GRCm39) probably benign Het
Ppp1r15b G T 1: 133,064,391 (GRCm39) probably benign Het
Psmd2 G T 16: 20,479,176 (GRCm39) L678F probably null Het
Ptch2 A G 4: 116,963,340 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,158 (GRCm39) D959E probably benign Het
Rph3al C T 11: 75,724,227 (GRCm39) probably null Het
Sec31b T A 19: 44,512,992 (GRCm39) E499V probably damaging Het
Sel1l T C 12: 91,778,663 (GRCm39) I667M probably benign Het
Sel1l C A 12: 91,780,719 (GRCm39) V641L possibly damaging Het
Slc7a1 T A 5: 148,288,879 (GRCm39) I123F probably damaging Het
Smarca2 G A 19: 26,659,275 (GRCm39) R855Q possibly damaging Het
Sphk1 G T 11: 116,427,184 (GRCm39) probably benign Het
Spink12 C A 18: 44,237,755 (GRCm39) S11* probably null Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Stxbp1 T C 2: 32,709,860 (GRCm39) T78A probably benign Het
Trim11 T A 11: 58,881,410 (GRCm39) S434R probably damaging Het
Ubr2 T C 17: 47,266,812 (GRCm39) E1113G probably damaging Het
Upb1 T A 10: 75,264,188 (GRCm39) probably benign Het
Vit T A 17: 78,932,266 (GRCm39) C458S probably damaging Het
Vmn1r58 T C 7: 5,414,165 (GRCm39) I22V probably benign Het
Vps25 T C 11: 101,149,731 (GRCm39) probably benign Het
Wbp2 G T 11: 115,973,211 (GRCm39) D65E possibly damaging Het
Wdr72 A G 9: 74,124,588 (GRCm39) D980G probably benign Het
Xkr8 A C 4: 132,458,228 (GRCm39) probably null Het
Other mutations in Immt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01974:Immt APN 6 71,849,842 (GRCm39) missense probably damaging 0.99
IGL02085:Immt APN 6 71,828,820 (GRCm39) missense probably benign 0.30
IGL02493:Immt APN 6 71,821,700 (GRCm39) splice site probably benign
Glut UTSW 6 71,838,024 (GRCm39) missense probably damaging 1.00
P0045:Immt UTSW 6 71,845,601 (GRCm39) missense possibly damaging 0.88
R0106:Immt UTSW 6 71,828,828 (GRCm39) missense probably benign 0.22
R0106:Immt UTSW 6 71,828,828 (GRCm39) missense probably benign 0.22
R0671:Immt UTSW 6 71,848,541 (GRCm39) missense possibly damaging 0.95
R0676:Immt UTSW 6 71,828,828 (GRCm39) missense probably benign 0.22
R0718:Immt UTSW 6 71,840,156 (GRCm39) missense probably damaging 1.00
R0789:Immt UTSW 6 71,838,051 (GRCm39) missense probably damaging 1.00
R0980:Immt UTSW 6 71,851,310 (GRCm39) missense probably benign 0.19
R1332:Immt UTSW 6 71,823,256 (GRCm39) splice site probably benign
R1688:Immt UTSW 6 71,833,995 (GRCm39) missense probably damaging 1.00
R2106:Immt UTSW 6 71,848,499 (GRCm39) missense possibly damaging 0.80
R2149:Immt UTSW 6 71,821,659 (GRCm39) nonsense probably null
R3706:Immt UTSW 6 71,839,346 (GRCm39) missense probably benign 0.01
R4393:Immt UTSW 6 71,849,784 (GRCm39) missense probably benign 0.04
R4543:Immt UTSW 6 71,828,762 (GRCm39) missense probably damaging 0.97
R4645:Immt UTSW 6 71,833,923 (GRCm39) missense probably damaging 1.00
R4774:Immt UTSW 6 71,829,720 (GRCm39) missense probably damaging 1.00
R5535:Immt UTSW 6 71,829,768 (GRCm39) missense probably null 1.00
R5920:Immt UTSW 6 71,840,180 (GRCm39) missense probably benign 0.18
R7002:Immt UTSW 6 71,838,024 (GRCm39) missense probably damaging 1.00
R7266:Immt UTSW 6 71,851,689 (GRCm39) missense probably benign 0.26
R7326:Immt UTSW 6 71,823,353 (GRCm39) missense probably damaging 1.00
R7949:Immt UTSW 6 71,851,327 (GRCm39) nonsense probably null
R8185:Immt UTSW 6 71,849,835 (GRCm39) nonsense probably null
R8200:Immt UTSW 6 71,848,421 (GRCm39) missense probably damaging 0.96
R8444:Immt UTSW 6 71,848,492 (GRCm39) nonsense probably null
R8828:Immt UTSW 6 71,829,762 (GRCm39) nonsense probably null
R9135:Immt UTSW 6 71,851,403 (GRCm39) missense probably damaging 1.00
R9136:Immt UTSW 6 71,851,403 (GRCm39) missense probably damaging 1.00
R9245:Immt UTSW 6 71,823,350 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTGCTGGTAAGATTGCTGGAGC -3'
(R):5'- TGTGGCAAGTTGCAGTGAGTTATACAC -3'

Sequencing Primer
(F):5'- GCTGGAGCTGGCCTTTTG -3'
(R):5'- ccccaaatgtaggaggtgaag -3'
Posted On 2013-06-11