Incidental Mutation 'R0671:Immt'
ID 61437
Institutional Source Beutler Lab
Gene Symbol Immt
Ensembl Gene ENSMUSG00000052337
Gene Name inner membrane protein, mitochondrial
Synonyms mitofilin, D830041H16Rik, P87/89, P89, P87, 1700082C19Rik, HMP
MMRRC Submission 038856-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock # R0671 (G1)
Quality Score 160
Status Validated
Chromosome 6
Chromosomal Location 71831331-71877388 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71871557 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 467 (Q467L)
Ref Sequence ENSEMBL: ENSMUSP00000145872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064062] [ENSMUST00000101301] [ENSMUST00000114151] [ENSMUST00000166938] [ENSMUST00000166975] [ENSMUST00000207003]
AlphaFold Q8CAQ8
Predicted Effect probably benign
Transcript: ENSMUST00000064062
AA Change: Q510L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000066181
Gene: ENSMUSG00000052337
AA Change: Q510L

DomainStartEndE-ValueType
Pfam:Mitofilin 40 745 5e-207 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101301
AA Change: Q499L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000098859
Gene: ENSMUSG00000052337
AA Change: Q499L

DomainStartEndE-ValueType
Pfam:Mitofilin 40 734 3.9e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114151
AA Change: Q462L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109788
Gene: ENSMUSG00000052337
AA Change: Q462L

DomainStartEndE-ValueType
Pfam:Mitofilin 40 697 1.3e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166938
AA Change: Q432L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000128967
Gene: ENSMUSG00000052337
AA Change: Q432L

DomainStartEndE-ValueType
Pfam:Mitofilin 40 667 3.6e-166 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166975
AA Change: Q432L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128367
Gene: ENSMUSG00000052337
AA Change: Q432L

DomainStartEndE-ValueType
Pfam:Mitofilin 40 467 1.1e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205371
Predicted Effect unknown
Transcript: ENSMUST00000205628
AA Change: Q7L
Predicted Effect unknown
Transcript: ENSMUST00000206330
AA Change: Q20L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206836
Predicted Effect possibly damaging
Transcript: ENSMUST00000207003
AA Change: Q467L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207015
Meta Mutation Damage Score 0.2305 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 99% (125/126)
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,003,008 probably benign Het
4930430A15Rik A C 2: 111,204,137 V350G possibly damaging Het
A530064D06Rik G A 17: 48,166,656 T31I probably benign Het
Abca17 A G 17: 24,281,249 F1323L probably benign Het
Abcf3 T A 16: 20,550,487 N206K probably damaging Het
Adam10 A G 9: 70,765,941 probably benign Het
Adamtsl3 A T 7: 82,523,182 Q451L probably damaging Het
Adgrl3 T A 5: 81,560,905 I413N probably benign Het
Asb18 G T 1: 89,993,171 A128E probably damaging Het
Atf7ip2 T C 16: 10,241,879 S428P possibly damaging Het
Atp8b5 G T 4: 43,291,672 C15F possibly damaging Het
Bahcc1 A G 11: 120,287,320 E2235G probably damaging Het
Blnk G T 19: 40,937,667 S330* probably null Het
Bpnt1 T G 1: 185,356,611 N319K probably benign Het
Brip1 G A 11: 86,152,667 T357I possibly damaging Het
Cadm1 T A 9: 47,813,806 D288E probably benign Het
Calcoco2 A G 11: 96,107,528 V23A probably damaging Het
Cand2 G A 6: 115,803,805 E1217K probably damaging Het
Ccdc154 G T 17: 25,167,285 probably benign Het
Cdk12 T C 11: 98,230,109 probably benign Het
Clec4a3 A G 6: 122,954,034 probably null Het
Cpne2 T A 8: 94,548,342 probably benign Het
Cyfip1 T C 7: 55,923,962 probably null Het
Cyp26c1 A G 19: 37,686,561 H110R probably damaging Het
Cyp2j13 A G 4: 96,071,695 Y75H probably damaging Het
Defb43 T A 14: 63,011,838 V10D probably damaging Het
Dhx36 G A 3: 62,493,741 S368L possibly damaging Het
Dock6 G A 9: 21,804,627 probably benign Het
Elp2 T C 18: 24,612,442 probably benign Het
Emilin3 A G 2: 160,908,329 L453P probably damaging Het
Eml6 A T 11: 29,805,065 D903E probably benign Het
Ep300 T C 15: 81,616,134 probably benign Het
Ep400 G A 5: 110,688,196 T1899M unknown Het
Fancg A G 4: 43,002,998 S620P probably benign Het
Fbxo42 G A 4: 141,195,239 V239M probably damaging Het
Fermt2 T C 14: 45,469,319 D340G probably benign Het
Filip1 A T 9: 79,819,390 V649E probably damaging Het
Fut8 G A 12: 77,475,017 E477K probably damaging Het
Gbp3 G A 3: 142,565,390 G185D probably benign Het
Gclc G T 9: 77,786,798 D345Y probably damaging Het
Gkn2 A G 6: 87,375,818 D43G possibly damaging Het
Gm960 A G 19: 4,626,188 S639P probably damaging Het
Gnptab A G 10: 88,443,304 probably benign Het
Greb1l C T 18: 10,474,303 T206I probably damaging Het
Grk4 A G 5: 34,748,267 N452S probably benign Het
Hcn2 G C 10: 79,734,232 probably null Het
Hpn T C 7: 31,109,160 K76E possibly damaging Het
Hspg2 A G 4: 137,553,280 D3268G probably damaging Het
Kalrn T C 16: 34,116,408 S1636G probably benign Het
Kcnh8 T A 17: 52,978,113 L1037* probably null Het
Klhl33 T C 14: 50,892,394 T548A probably damaging Het
Klri2 T C 6: 129,740,208 I71V probably benign Het
Kmt2c A T 5: 25,404,365 C254S probably damaging Het
Lama3 T C 18: 12,477,590 I1170T possibly damaging Het
Med12l A G 3: 59,264,929 Q1702R probably damaging Het
Mga A T 2: 119,919,910 probably null Het
Mis18a A T 16: 90,720,673 I172K possibly damaging Het
Mrgpre T C 7: 143,781,517 D83G probably benign Het
Mroh2a C A 1: 88,242,420 A685D possibly damaging Het
Mrpl39 T C 16: 84,734,394 probably benign Het
Mrrf C T 2: 36,153,698 A149V probably benign Het
Mycbp2 A T 14: 103,194,588 M2338K possibly damaging Het
Myo18b T C 5: 112,692,766 Q2387R probably benign Het
N4bp2 T C 5: 65,807,437 I943T probably damaging Het
Ncapd3 T A 9: 27,087,477 N1254K probably benign Het
Ncoa1 A T 12: 4,249,758 probably null Het
Ncor2 C T 5: 125,049,387 A136T probably benign Het
Olfr311 T A 11: 58,841,855 I247N possibly damaging Het
Olfr483 C A 7: 108,104,156 Y282* probably null Het
Olfr539 A G 7: 140,667,677 D123G probably damaging Het
Olfr887 T A 9: 38,085,127 M97K possibly damaging Het
Opa1 T C 16: 29,602,207 probably benign Het
Pcdhb4 T C 18: 37,307,742 M35T probably benign Het
Per3 T C 4: 151,028,831 I347V probably benign Het
Pex13 G A 11: 23,665,831 P5L possibly damaging Het
Phkb T A 8: 85,875,693 W38R probably damaging Het
Plekhf1 A T 7: 38,221,402 D247E probably benign Het
Plxnb2 A G 15: 89,157,981 S1607P probably benign Het
Plxnc1 T A 10: 94,799,332 H1344L possibly damaging Het
Ptk7 T G 17: 46,590,312 N196H possibly damaging Het
Rab27a G T 9: 73,075,433 D7Y probably damaging Het
Rars2 T A 4: 34,630,505 C82* probably null Het
Rccd1 A T 7: 80,320,217 probably benign Het
Riiad1 T C 3: 94,472,239 I56V possibly damaging Het
Rnase4 A G 14: 51,105,050 E77G probably damaging Het
Rnf126 A T 10: 79,761,607 I157N possibly damaging Het
Rnf207 T C 4: 152,307,468 R623G probably benign Het
Rpusd1 T G 17: 25,728,524 F62V possibly damaging Het
Rxfp1 T C 3: 79,663,293 probably null Het
Scfd1 A T 12: 51,412,628 Q324L probably benign Het
Skint3 G T 4: 112,255,777 E195* probably null Het
Slc7a10 A T 7: 35,197,333 T165S probably benign Het
Smagp A G 15: 100,621,852 I97T probably damaging Het
Sostdc1 A G 12: 36,317,341 H172R probably damaging Het
Spast A G 17: 74,339,451 probably benign Het
Sspo G T 6: 48,490,391 probably benign Het
Ston2 C T 12: 91,740,466 probably null Het
Tas2r103 T G 6: 133,036,350 E251A probably benign Het
Tbc1d2b A T 9: 90,222,505 probably benign Het
Telo2 G A 17: 25,113,165 P143L probably benign Het
Tgfbi A T 13: 56,638,726 Y674F probably null Het
Tha1 T A 11: 117,873,157 probably benign Het
Timp4 T A 6: 115,249,853 S110C probably damaging Het
Tlr6 T C 5: 64,954,592 K324R probably benign Het
Tnip3 A G 6: 65,597,363 E137G probably damaging Het
Trak1 T C 9: 121,448,955 probably null Het
Trim47 A G 11: 116,108,352 S233P probably benign Het
Tspoap1 A T 11: 87,762,809 E155V probably damaging Het
Tsta3 A G 15: 75,928,958 V27A possibly damaging Het
Uggt1 A T 1: 36,155,128 L1343Q probably damaging Het
Utp14b T C 1: 78,664,735 S117P probably benign Het
Vmn1r124 A T 7: 21,260,511 V36D probably damaging Het
Wdr27 T C 17: 14,928,396 T112A probably benign Het
Wdr90 T C 17: 25,846,393 T1630A probably benign Het
Zfp352 A G 4: 90,223,919 T99A probably benign Het
Other mutations in Immt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01974:Immt APN 6 71872858 missense probably damaging 0.99
IGL02085:Immt APN 6 71851836 missense probably benign 0.30
IGL02493:Immt APN 6 71844716 splice site probably benign
glut UTSW 6 71861040 missense probably damaging 1.00
P0045:Immt UTSW 6 71868617 missense possibly damaging 0.88
R0106:Immt UTSW 6 71851844 missense probably benign 0.22
R0106:Immt UTSW 6 71851844 missense probably benign 0.22
R0565:Immt UTSW 6 71846483 splice site probably benign
R0676:Immt UTSW 6 71851844 missense probably benign 0.22
R0718:Immt UTSW 6 71863172 missense probably damaging 1.00
R0789:Immt UTSW 6 71861067 missense probably damaging 1.00
R0980:Immt UTSW 6 71874326 missense probably benign 0.19
R1332:Immt UTSW 6 71846272 splice site probably benign
R1688:Immt UTSW 6 71857011 missense probably damaging 1.00
R2106:Immt UTSW 6 71871515 missense possibly damaging 0.80
R2149:Immt UTSW 6 71844675 nonsense probably null
R3706:Immt UTSW 6 71862362 missense probably benign 0.01
R4393:Immt UTSW 6 71872800 missense probably benign 0.04
R4543:Immt UTSW 6 71851778 missense probably damaging 0.97
R4645:Immt UTSW 6 71856939 missense probably damaging 1.00
R4774:Immt UTSW 6 71852736 missense probably damaging 1.00
R5535:Immt UTSW 6 71852784 missense probably null 1.00
R5920:Immt UTSW 6 71863196 missense probably benign 0.18
R7002:Immt UTSW 6 71861040 missense probably damaging 1.00
R7266:Immt UTSW 6 71874705 missense probably benign 0.26
R7326:Immt UTSW 6 71846369 missense probably damaging 1.00
R7949:Immt UTSW 6 71874343 nonsense probably null
R8185:Immt UTSW 6 71872851 nonsense probably null
R8200:Immt UTSW 6 71871437 missense probably damaging 0.96
R8444:Immt UTSW 6 71871508 nonsense probably null
R8828:Immt UTSW 6 71852778 nonsense probably null
R9135:Immt UTSW 6 71874419 missense probably damaging 1.00
R9136:Immt UTSW 6 71874419 missense probably damaging 1.00
R9245:Immt UTSW 6 71846366 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGCTGCTGCTACTGTTAGCTTCC -3'
(R):5'- GCATGGCTGATGTAAAACGAACTGG -3'

Sequencing Primer
(F):5'- GTTCCCTAAACGTGCATATGG -3'
(R):5'- TTCACCCAAGCTAGGTACCA -3'
Posted On 2013-07-30