Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:Mtfr1l'

293765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtfr1l

Ensembl Gene

ENSMUSG00000046671

Gene Name

mitochondrial fission regulator 1-like

Synonyms

2410166I05Rik, Fam54b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

134252866-134262698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134257696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 111 (L111H)

Ref Sequence

ENSEMBL: ENSMUSP00000117943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102550] [ENSMUST00000116279] [ENSMUST00000131613] [ENSMUST00000146808] [ENSMUST00000154769]

AlphaFold

Q9CWE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000102550
AA Change: L111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671
AA Change: L111H

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	7	251	4.9e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116279
AA Change: L111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671
AA Change: L111H

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	7	251	4.9e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130187

Predicted Effect

probably damaging
Transcript: ENSMUST00000131613
AA Change: L111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671
AA Change: L111H

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	5	201	2.3e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146808
AA Change: L111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120200
Gene: ENSMUSG00000046671
AA Change: L111H

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	5	225	1.5e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154769
AA Change: L111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671
AA Change: L111H

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	5	237	1.5e-84	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	T	G	11: 109,324,887 (GRCm39)		probably benign	Het
Atp13a5	A	G	16: 29,051,560 (GRCm39)	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,579,141 (GRCm39)	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,864,318 (GRCm39)	D122E	probably damaging	Het
Crtc2	G	A	3: 90,166,474 (GRCm39)	G65S	probably benign	Het
Dnah17	T	C	11: 117,971,593 (GRCm39)	T2160A	probably damaging	Het
Fads3	T	G	19: 10,032,483 (GRCm39)	L278R	probably damaging	Het
Foxp4	A	T	17: 48,186,507 (GRCm39)	L424*	probably null	Het
Gm10392	A	T	11: 77,409,216 (GRCm39)	E310V	probably damaging	Het
Gm11554	T	A	11: 99,694,815 (GRCm39)	S133C	unknown	Het
Hacd2	T	A	16: 34,926,761 (GRCm39)	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113 (GRCm38)	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674 (GRCm39)		probably null	Het
Mysm1	A	G	4: 94,858,741 (GRCm39)		probably benign	Het
Or10j2	C	A	1: 173,098,507 (GRCm39)	S255Y	probably damaging	Het
Or52d1	T	C	7: 103,755,819 (GRCm39)	V111A	probably damaging	Het
Plec	A	T	15: 76,075,231 (GRCm39)	F357I	probably damaging	Het
Polr3a	C	A	14: 24,525,891 (GRCm39)	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,411,456 (GRCm39)	K764R	probably benign	Het
Pxn	C	T	5: 115,690,325 (GRCm39)	P256S	probably damaging	Het
Rbm25	T	A	12: 83,707,096 (GRCm39)	F247L	probably benign	Het
Rfx4	C	T	10: 84,675,970 (GRCm39)	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,526,499 (GRCm39)		noncoding transcript	Het
Scn11a	A	G	9: 119,587,610 (GRCm39)	I1378T	probably benign	Het
Siglecg	T	C	7: 43,058,319 (GRCm39)	S69P	probably benign	Het
Stox1	T	C	10: 62,503,605 (GRCm39)	Y61C	probably damaging	Het
Tex55	T	A	16: 38,648,309 (GRCm39)	T267S	probably benign	Het
Tnks	C	T	8: 35,298,882 (GRCm39)		probably benign	Het
Tpr	A	G	1: 150,306,943 (GRCm39)	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,090,433 (GRCm39)	*97Q	probably null	Het
Usf3	T	C	16: 44,037,545 (GRCm39)	V675A	probably damaging	Het
Wdr7	C	T	18: 63,929,299 (GRCm39)	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,552,254 (GRCm39)	C618S	probably benign	Het
Zfp398	T	C	6: 47,817,301 (GRCm39)	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,134,211 (GRCm39)	N423S	probably benign	Het

Other mutations in Mtfr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Mtfr1l	APN	4	134,256,511 (GRCm39)	missense	probably damaging	0.97
IGL01868:Mtfr1l	APN	4	134,258,018 (GRCm39)	missense	probably null	1.00
IGL02218:Mtfr1l	APN	4	134,256,491 (GRCm39)	missense	probably benign	0.39
IGL02338:Mtfr1l	APN	4	134,258,054 (GRCm39)	missense	probably damaging	1.00
IGL03102:Mtfr1l	APN	4	134,259,543 (GRCm39)	missense	probably damaging	0.99
R1183:Mtfr1l	UTSW	4	134,256,436 (GRCm39)	missense	probably damaging	1.00
R4389:Mtfr1l	UTSW	4	134,259,953 (GRCm39)	utr 5 prime	probably benign
R6620:Mtfr1l	UTSW	4	134,256,394 (GRCm39)	splice site	probably null
R7363:Mtfr1l	UTSW	4	134,256,577 (GRCm39)	missense	probably benign	0.09
R9517:Mtfr1l	UTSW	4	134,256,515 (GRCm39)	missense	probably benign
R9790:Mtfr1l	UTSW	4	134,258,063 (GRCm39)	missense	probably benign	0.00
R9791:Mtfr1l	UTSW	4	134,258,063 (GRCm39)	missense	probably benign	0.00
Z1176:Mtfr1l	UTSW	4	134,257,990 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16