Mutagenetix > Incidental Mutation

Incidental Mutation 'R6807:Iba57'

533612

Institutional Source

Beutler Lab

Gene Symbol

Iba57

Ensembl Gene

ENSMUSG00000049287

Gene Name

IBA57 homolog, iron-sulfur cluster assembly

Synonyms

4930543L23Rik, A230051G13Rik

MMRRC Submission

044920-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R6807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59046195-59054565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59049440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 243 (P243H)

Ref Sequence

ENSEMBL: ENSMUSP00000049823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054523] [ENSMUST00000069631] [ENSMUST00000137433]

AlphaFold

Q8CAK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054523
AA Change: P243H

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

SMART Domains

Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: P243H

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:GCV_T_C	259	352	1.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069631

SMART Domains

Protein: ENSMUSP00000065882
Gene: ENSMUSG00000049287

Domain	Start	End	E-Value	Type
low complexity region	81	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137433

SMART Domains

Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:GCV_T	50	148	7.7e-9	PFAM

Meta Mutation Damage Score

0.9069

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.9%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,282,356 (GRCm39)	T2158A	probably benign	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apol7a	T	C	15: 77,277,520 (GRCm39)		probably null	Het
Bicdl1	C	T	5: 115,810,202 (GRCm39)		probably null	Het
Bop1	T	A	15: 76,339,183 (GRCm39)	Q362L	probably damaging	Het
C4b	T	C	17: 34,949,930 (GRCm39)	D1418G	probably benign	Het
Cdh23	A	G	10: 60,214,650 (GRCm39)	V1455A	possibly damaging	Het
Cecr2	T	G	6: 120,711,503 (GRCm39)		probably null	Het
Cer1	T	C	4: 82,801,052 (GRCm39)	S204G	probably benign	Het
Cers3	G	C	7: 66,413,968 (GRCm39)	W15C	probably damaging	Het
Csn1s2a	A	T	5: 87,929,731 (GRCm39)	H110L	probably benign	Het
Dnah10	T	G	5: 124,867,064 (GRCm39)		probably null	Het
Dync2h1	T	C	9: 7,041,718 (GRCm39)	N3315S	probably benign	Het
Dynlrb2	T	C	8: 117,234,299 (GRCm39)	M21T	probably benign	Het
Emilin1	T	A	5: 31,072,871 (GRCm39)	F103I	probably benign	Het
Esrra	T	A	19: 6,889,142 (GRCm39)	M416L	probably benign	Het
Etaa1	C	A	11: 17,902,680 (GRCm39)	V86L	probably benign	Het
Extl3	A	G	14: 65,314,211 (GRCm39)	S324P	probably damaging	Het
Fam90a1a	T	C	8: 22,453,368 (GRCm39)	V241A	probably benign	Het
Fat4	C	A	3: 39,036,589 (GRCm39)	Q3414K	probably benign	Het
Gpr162	C	T	6: 124,838,164 (GRCm39)	R162H	probably damaging	Het
Gpr21	T	A	2: 37,407,974 (GRCm39)	Y173*	probably null	Het
Gprc6a	G	A	10: 51,502,841 (GRCm39)	Q341*	probably null	Het
Herc2	T	A	7: 55,814,670 (GRCm39)	S2674R	probably damaging	Het
Hnrnpdl	A	T	5: 100,186,995 (GRCm39)	H9Q	probably null	Het
Hps1	A	G	19: 42,759,217 (GRCm39)	V125A	possibly damaging	Het
Incenp	G	T	19: 9,855,120 (GRCm39)	A597E	unknown	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Klb	G	A	5: 65,536,877 (GRCm39)	V736M	probably damaging	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Krt73	T	G	15: 101,704,842 (GRCm39)	E348A	probably damaging	Het
Lig3	T	A	11: 82,674,577 (GRCm39)	D134E	probably benign	Het
Limd2	T	C	11: 106,049,771 (GRCm39)	T73A	probably benign	Het
Lrpprc	A	G	17: 85,056,531 (GRCm39)	S787P	possibly damaging	Het
Macf1	A	G	4: 123,268,208 (GRCm39)	M6735T	probably damaging	Het
Mapkbp1	C	A	2: 119,851,640 (GRCm39)	Q861K	probably damaging	Het
Mc4r	T	A	18: 66,992,927 (GRCm39)	N62I	probably damaging	Het
Metap1d	G	A	2: 71,341,858 (GRCm39)	V151I	probably damaging	Het
Nek2	T	C	1: 191,554,729 (GRCm39)	V147A	probably damaging	Het
Nlrp1b	A	T	11: 71,108,530 (GRCm39)	W324R	probably damaging	Het
Nol4l	G	T	2: 153,325,746 (GRCm39)	S113*	probably null	Het
Oc90	T	A	15: 65,761,463 (GRCm39)	D185V	probably damaging	Het
Or2a52	T	C	6: 43,144,172 (GRCm39)	F60S	probably damaging	Het
Or2v1	G	A	11: 49,025,805 (GRCm39)	R262K	probably damaging	Het
Or4a71	G	A	2: 89,357,932 (GRCm39)	T274M	probably damaging	Het
Or5m13	A	T	2: 85,748,382 (GRCm39)	T38S	possibly damaging	Het
Or5p51	T	A	7: 107,444,797 (GRCm39)	T48S	possibly damaging	Het
Or8g50	A	T	9: 39,648,914 (GRCm39)	K268*	probably null	Het
Pcdha8	A	G	18: 37,127,401 (GRCm39)	T628A	probably damaging	Het
Pcsk5	A	T	19: 17,549,986 (GRCm39)		probably null	Het
Pdgfrb	T	C	18: 61,211,721 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,438,555 (GRCm39)		probably null	Het
Pin1rt1	T	A	2: 104,545,063 (GRCm39)	Y23F	probably benign	Het
Poli	T	A	18: 70,663,222 (GRCm39)		probably null	Het
Pom121	C	A	5: 135,409,978 (GRCm39)		probably benign	Het
Ppp2r5c	A	G	12: 110,535,456 (GRCm39)	D407G	possibly damaging	Het
Pramel28	A	G	4: 143,691,581 (GRCm39)	S381P	probably damaging	Het
Rgs12	A	G	5: 35,180,515 (GRCm39)	D116G	probably null	Het
Serpina3b	A	T	12: 104,099,251 (GRCm39)	E255D	probably benign	Het
Sft2d1rt	T	C	11: 45,942,859 (GRCm39)	Q88R	probably damaging	Het
Slc46a1	A	G	11: 78,357,790 (GRCm39)	H281R	probably damaging	Het
Spata6	T	C	4: 111,642,012 (GRCm39)	I294T	probably benign	Het
Srgap1	T	A	10: 121,664,631 (GRCm39)		probably null	Het
Stag1	C	T	9: 100,826,903 (GRCm39)	R957C	probably damaging	Het
Stk35	G	A	2: 129,643,573 (GRCm39)	E186K	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,544,478 (GRCm39)	V2165I	probably damaging	Het
Tmem53	T	C	4: 117,125,528 (GRCm39)	S207P	probably benign	Het
Ugt2a3	A	G	5: 87,484,617 (GRCm39)	F136L	probably benign	Het
Unc13d	T	C	11: 115,957,577 (GRCm39)	K795E	probably damaging	Het
Zbtb11	C	A	16: 55,810,865 (GRCm39)	T341K	probably benign	Het

Other mutations in Iba57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Iba57	APN	11	59,049,775 (GRCm39)	missense	probably damaging	1.00
IGL02496:Iba57	APN	11	59,049,772 (GRCm39)	missense	probably benign	0.26
FR4737:Iba57	UTSW	11	59,052,331 (GRCm39)	frame shift	probably null
R0052:Iba57	UTSW	11	59,049,727 (GRCm39)	missense	probably benign	0.06
R0103:Iba57	UTSW	11	59,054,439 (GRCm39)	missense	probably benign	0.01
R0467:Iba57	UTSW	11	59,054,265 (GRCm39)	missense	probably benign	0.03
R4540:Iba57	UTSW	11	59,053,904 (GRCm39)	intron	probably benign
R4626:Iba57	UTSW	11	59,049,287 (GRCm39)	missense	probably benign	0.01
R6344:Iba57	UTSW	11	59,049,119 (GRCm39)	missense	probably damaging	1.00
R6541:Iba57	UTSW	11	59,049,689 (GRCm39)	missense	possibly damaging	0.83
R6711:Iba57	UTSW	11	59,049,369 (GRCm39)	missense	probably damaging	1.00
R7992:Iba57	UTSW	11	59,052,288 (GRCm39)	missense	unknown
R8065:Iba57	UTSW	11	59,054,086 (GRCm39)	intron	probably benign
R8067:Iba57	UTSW	11	59,054,086 (GRCm39)	intron	probably benign
R8959:Iba57	UTSW	11	59,052,461 (GRCm39)	missense	probably benign	0.35
RF011:Iba57	UTSW	11	59,054,438 (GRCm39)	missense	probably benign	0.05
Z1186:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1186:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1186:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1186:Iba57	UTSW	11	59,052,332 (GRCm39)	frame shift	probably null
Z1186:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1187:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1187:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1187:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1187:Iba57	UTSW	11	59,052,330 (GRCm39)	frame shift	probably null
Z1187:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1188:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1188:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1188:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1188:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1189:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1189:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1189:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1189:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1190:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1190:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1190:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1190:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1191:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1191:Iba57	UTSW	11	59,052,332 (GRCm39)	frame shift	probably null
Z1191:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1191:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown
Z1191:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1192:Iba57	UTSW	11	59,052,384 (GRCm39)	missense	unknown
Z1192:Iba57	UTSW	11	59,052,381 (GRCm39)	missense	unknown
Z1192:Iba57	UTSW	11	59,052,329 (GRCm39)	frame shift	probably null
Z1192:Iba57	UTSW	11	59,053,865 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCAGTCACCGTCACTATG -3'
(R):5'- GTATGAGTAGGGACAGCTATGC -3'

Sequencing Primer
(F):5'- TCACCGTCACTATGGCGCC -3'
(R):5'- TAGGGACAGCTATGCCAGGC -3'

Posted On

2018-09-12