Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Immt'

61437

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

038856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R0671 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

71806200-71852250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71848541 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000207003
AA Change: Q467L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206836

Meta Mutation Damage Score

0.2305

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,637 (GRCm39)		probably benign	Het
A530064D06Rik	G	A	17: 48,473,824 (GRCm39)	T31I	probably benign	Het
Abca17	A	G	17: 24,500,223 (GRCm39)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,369,237 (GRCm39)	N206K	probably damaging	Het
Adam10	A	G	9: 70,673,223 (GRCm39)		probably benign	Het
Adamtsl3	A	T	7: 82,172,390 (GRCm39)	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,708,752 (GRCm39)	I413N	probably benign	Het
Asb18	G	T	1: 89,920,893 (GRCm39)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,059,743 (GRCm39)	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672 (GRCm39)	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,178,146 (GRCm39)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,926,111 (GRCm39)	S330*	probably null	Het
Bpnt1	T	G	1: 185,088,808 (GRCm39)	N319K	probably benign	Het
Brip1	G	A	11: 86,043,493 (GRCm39)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,725,104 (GRCm39)	D288E	probably benign	Het
Calcoco2	A	G	11: 95,998,354 (GRCm39)	V23A	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,386,259 (GRCm39)		probably benign	Het
Cdk12	T	C	11: 98,120,935 (GRCm39)		probably benign	Het
Clec4a3	A	G	6: 122,930,993 (GRCm39)		probably null	Het
Cpne2	T	A	8: 95,274,970 (GRCm39)		probably benign	Het
Cyfip1	T	C	7: 55,573,710 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,675,009 (GRCm39)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,249,287 (GRCm39)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,401,162 (GRCm39)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,715,923 (GRCm39)		probably benign	Het
Elp2	T	C	18: 24,745,499 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,249 (GRCm39)	L453P	probably damaging	Het
Eml6	A	T	11: 29,755,065 (GRCm39)	D903E	probably benign	Het
Ep300	T	C	15: 81,500,335 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,836,062 (GRCm39)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Fbxo42	G	A	4: 140,922,550 (GRCm39)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,706,776 (GRCm39)	D340G	probably benign	Het
Filip1	A	T	9: 79,726,672 (GRCm39)	V649E	probably damaging	Het
Fut8	G	A	12: 77,521,791 (GRCm39)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,271,151 (GRCm39)	G185D	probably benign	Het
Gclc	G	T	9: 77,694,080 (GRCm39)	D345Y	probably damaging	Het
Gfus	A	G	15: 75,800,807 (GRCm39)	V27A	possibly damaging	Het
Gkn2	A	G	6: 87,352,800 (GRCm39)	D43G	possibly damaging	Het
Gnptab	A	G	10: 88,279,166 (GRCm39)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm39)	T206I	probably damaging	Het
Grk4	A	G	5: 34,905,611 (GRCm39)	N452S	probably benign	Het
Hcn2	G	C	10: 79,570,066 (GRCm39)		probably null	Het
Hpn	T	C	7: 30,808,585 (GRCm39)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,280,591 (GRCm39)	D3268G	probably damaging	Het
Kalrn	T	C	16: 33,936,778 (GRCm39)	S1636G	probably benign	Het
Kcnh8	T	A	17: 53,285,141 (GRCm39)	L1037*	probably null	Het
Klhl33	T	C	14: 51,129,851 (GRCm39)	T548A	probably damaging	Het
Klri2	T	C	6: 129,717,171 (GRCm39)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,609,363 (GRCm39)	C254S	probably damaging	Het
Lama3	T	C	18: 12,610,647 (GRCm39)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,172,350 (GRCm39)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,750,391 (GRCm39)		probably null	Het
Mis18a	A	T	16: 90,517,561 (GRCm39)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,335,254 (GRCm39)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,531,282 (GRCm39)		probably benign	Het
Mrrf	C	T	2: 36,043,710 (GRCm39)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,432,024 (GRCm39)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,840,632 (GRCm39)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,964,780 (GRCm39)	I943T	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,299,758 (GRCm39)		probably null	Het
Ncor2	C	T	5: 125,126,451 (GRCm39)	A136T	probably benign	Het
Opa1	T	C	16: 29,421,025 (GRCm39)		probably benign	Het
Or13a25	A	G	7: 140,247,590 (GRCm39)	D123G	probably damaging	Het
Or5p59	C	A	7: 107,703,363 (GRCm39)	Y282*	probably null	Het
Or8b39	T	A	9: 37,996,423 (GRCm39)	M97K	possibly damaging	Het
Or9e1	T	A	11: 58,732,681 (GRCm39)	I247N	possibly damaging	Het
Pcdhb4	T	C	18: 37,440,795 (GRCm39)	M35T	probably benign	Het
Per3	T	C	4: 151,113,288 (GRCm39)	I347V	probably benign	Het
Pex13	G	A	11: 23,615,831 (GRCm39)	P5L	possibly damaging	Het
Phkb	T	A	8: 86,602,322 (GRCm39)	W38R	probably damaging	Het
Plekhf1	A	T	7: 37,920,826 (GRCm39)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,042,184 (GRCm39)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,635,194 (GRCm39)	H1344L	possibly damaging	Het
Potefam1	A	C	2: 111,034,482 (GRCm39)	V350G	possibly damaging	Het
Ptk7	T	G	17: 46,901,238 (GRCm39)	N196H	possibly damaging	Het
Rab27a	G	T	9: 72,982,715 (GRCm39)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm39)	C82*	probably null	Het
Rccd1	A	T	7: 79,969,965 (GRCm39)		probably benign	Het
Riiad1	T	C	3: 94,379,546 (GRCm39)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,342,507 (GRCm39)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,597,441 (GRCm39)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,391,925 (GRCm39)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,947,498 (GRCm39)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,570,600 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,459,411 (GRCm39)	Q324L	probably benign	Het
Skint3	G	T	4: 112,112,974 (GRCm39)	E195*	probably null	Het
Slc7a10	A	T	7: 34,896,758 (GRCm39)	T165S	probably benign	Het
Smagp	A	G	15: 100,519,733 (GRCm39)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,367,340 (GRCm39)	H172R	probably damaging	Het
Spast	A	G	17: 74,646,446 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,325 (GRCm39)		probably benign	Het
Ston2	C	T	12: 91,707,240 (GRCm39)		probably null	Het
Tas2r103	T	G	6: 133,013,313 (GRCm39)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,104,558 (GRCm39)		probably benign	Het
Telo2	G	A	17: 25,332,139 (GRCm39)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,786,539 (GRCm39)	Y674F	probably null	Het
Tha1	T	A	11: 117,763,983 (GRCm39)		probably benign	Het
Timp4	T	A	6: 115,226,814 (GRCm39)	S110C	probably damaging	Het
Tlr6	T	C	5: 65,111,935 (GRCm39)	K324R	probably benign	Het
Tnip3	A	G	6: 65,574,347 (GRCm39)	E137G	probably damaging	Het
Top6bl	A	G	19: 4,676,216 (GRCm39)	S639P	probably damaging	Het
Trak1	T	C	9: 121,278,021 (GRCm39)		probably null	Het
Trim47	A	G	11: 115,999,178 (GRCm39)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,653,635 (GRCm39)	E155V	probably damaging	Het
Uggt1	A	T	1: 36,194,209 (GRCm39)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,642,452 (GRCm39)	S117P	probably benign	Het
Vmn1r124	A	T	7: 20,994,436 (GRCm39)	V36D	probably damaging	Het
Wdr27	T	C	17: 15,148,658 (GRCm39)	T112A	probably benign	Het
Wdr90	T	C	17: 26,065,367 (GRCm39)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,112,156 (GRCm39)	T99A	probably benign	Het

Other mutations in Immt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0565:Immt	UTSW	6	71,823,467 (GRCm39)	splice site	probably benign
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'- GAGCTGCTGCTACTGTTAGCTTCC -3'
(R):5'- GCATGGCTGATGTAAAACGAACTGG -3'

Sequencing Primer
(F):5'- GTTCCCTAAACGTGCATATGG -3'
(R):5'- TTCACCCAAGCTAGGTACCA -3'

Posted On

2013-07-30