Mutagenetix > Incidental Mutation

Incidental Mutation 'R7039:Iscu'

546937

Institutional Source

Beutler Lab

Gene Symbol

Iscu

Ensembl Gene

ENSMUSG00000025825

Gene Name

iron-sulfur cluster assembly enzyme

Synonyms

2310020H20Rik, Nifun

MMRRC Submission

045139-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113910809-113916349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113914833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 115 (V115A)

Ref Sequence

ENSEMBL: ENSMUSP00000107931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000026937] [ENSMUST00000112311] [ENSMUST00000112312] [ENSMUST00000123616] [ENSMUST00000145592] [ENSMUST00000145778]

AlphaFold

Q9D7P6

Predicted Effect

probably benign
Transcript: ENSMUST00000019118

SMART Domains

Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	11	33	N/A	INTRINSIC
low complexity region	42	50	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
HAT	127	159	1.76e1	SMART
HAT	165	196	4.82e-1	SMART
HAT	202	238	1.53e-3	SMART
low complexity region	269	281	N/A	INTRINSIC
HAT	325	357	1.78e-4	SMART
HAT	360	392	7.83e-1	SMART
HAT	395	431	7.56e0	SMART
HAT	488	521	7.31e-1	SMART
coiled coil region	554	619	N/A	INTRINSIC
low complexity region	626	640	N/A	INTRINSIC
RRM	705	778	1.87e-14	SMART
RRM	802	874	3.2e-22	SMART
Pfam:LSM_int_assoc	877	937	3.1e-28	PFAM
Pfam:Lsm_interact	944	961	2e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026937
AA Change: V115A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026937
Gene: ENSMUSG00000025825
AA Change: V115A

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	161	3.9e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112311
AA Change: V115A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107930
Gene: ENSMUSG00000025825
AA Change: V115A

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	149	1.1e-51	PFAM
low complexity region	170	188	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112312
AA Change: V115A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107931
Gene: ENSMUSG00000025825
AA Change: V115A

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:NifU_N	35	149	3.4e-49	PFAM
low complexity region	170	188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123616

SMART Domains

Protein: ENSMUSP00000117973
Gene: ENSMUSG00000025825

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134881

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145592
AA Change: V108A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123237
Gene: ENSMUSG00000025825
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:NifU_N	32	136	2.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145778

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	T	4: 56,741,022 (GRCm39)	L112Q	probably damaging	Het
Agap3	A	C	5: 24,688,399 (GRCm39)	I396L	probably benign	Het
AI987944	G	T	7: 41,023,880 (GRCm39)	S366R	probably benign	Het
Aox3	A	G	1: 58,215,714 (GRCm39)	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,340,111 (GRCm39)	L407*	probably null	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Brd3	T	C	2: 27,346,929 (GRCm39)	K402E	probably damaging	Het
Cc2d2b	A	T	19: 40,790,845 (GRCm39)	D935V	probably damaging	Het
Cenpe	A	G	3: 134,961,217 (GRCm39)	N1904D	probably benign	Het
Cfap74	G	T	4: 155,538,565 (GRCm39)		probably null	Het
Chrdl2	A	G	7: 99,677,879 (GRCm39)	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,348,278 (GRCm39)	R400C	probably benign	Het
Dhfr	G	A	13: 92,491,791 (GRCm39)	V9I	probably benign	Het
Epha4	A	G	1: 77,483,422 (GRCm39)	S196P	probably damaging	Het
Evc2	T	A	5: 37,579,232 (GRCm39)	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,287,561 (GRCm39)	E654V	probably damaging	Het
Fcgbpl1	G	A	7: 27,839,573 (GRCm39)	R462Q	possibly damaging	Het
Fer1l4	C	T	2: 155,878,650 (GRCm39)	V14I	probably benign	Het
Frmd5	A	T	2: 121,378,128 (GRCm39)		probably benign	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Igkv6-13	T	C	6: 70,434,498 (GRCm39)	S116G	probably benign	Het
Jade2	C	A	11: 51,719,186 (GRCm39)	K253N	probably damaging	Het
Katnal2	A	G	18: 77,134,868 (GRCm39)		probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Magi3	T	C	3: 103,958,699 (GRCm39)	D462G	probably damaging	Het
Map3k14	T	C	11: 103,111,861 (GRCm39)	N940S	probably damaging	Het
Masp2	A	T	4: 148,687,043 (GRCm39)	M1L	probably benign	Het
Mga	G	A	2: 119,763,159 (GRCm39)	V1272I	probably benign	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Msto1	A	C	3: 88,818,697 (GRCm39)	V287G	probably damaging	Het
Myo5b	T	A	18: 74,834,599 (GRCm39)	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946 (GRCm38)	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700 (GRCm38)	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130 (GRCm39)	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,267,367 (GRCm39)	T766S	probably benign	Het
Nol10	T	A	12: 17,479,185 (GRCm39)	S672T	possibly damaging	Het
Or4a80	A	T	2: 89,583,095 (GRCm39)	F26I	probably benign	Het
Or4c121	A	T	2: 89,023,790 (GRCm39)	I196N	probably damaging	Het
Or8d1b	T	A	9: 38,887,283 (GRCm39)	F104I	probably damaging	Het
Or8j3c	A	T	2: 86,253,177 (GRCm39)	I281K	possibly damaging	Het
Patj	T	A	4: 98,457,315 (GRCm39)	N1272K	probably damaging	Het
Peak1	T	C	9: 56,165,093 (GRCm39)	E945G	probably benign	Het
Peg3	C	T	7: 6,720,858 (GRCm39)	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,554,089 (GRCm39)	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,192,242 (GRCm39)	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,286,054 (GRCm39)	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,239,853 (GRCm39)	S908L	probably damaging	Het
Psmc3	A	G	2: 90,885,391 (GRCm39)	N60S	probably benign	Het
Rapgef1	T	A	2: 29,616,226 (GRCm39)	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,659,449 (GRCm39)	H54L	probably benign	Het
Rhobtb3	G	A	13: 76,020,572 (GRCm39)	R577*	probably null	Het
Safb2	T	C	17: 56,871,594 (GRCm39)	E218G	possibly damaging	Het
Scaf1	C	T	7: 44,657,850 (GRCm39)	R343H	probably damaging	Het
Snx24	G	A	18: 53,473,307 (GRCm39)		probably null	Het
Tbc1d1	T	C	5: 64,442,100 (GRCm39)	F707L	probably benign	Het
Tcaf2	T	C	6: 42,603,074 (GRCm39)	T829A	probably damaging	Het
Tcea2	C	T	2: 181,328,711 (GRCm39)	Q248*	probably null	Het
Tcirg1	A	T	19: 3,946,666 (GRCm39)	L729Q	probably damaging	Het
Thap3	A	G	4: 152,070,149 (GRCm39)	F82L	probably damaging	Het
Ttk	T	A	9: 83,750,145 (GRCm39)	M700K	probably damaging	Het
Ubap2l	G	T	3: 89,909,662 (GRCm39)	P56H	probably damaging	Het
Ubr2	A	G	17: 47,321,139 (GRCm39)	S3P	probably benign	Het
Uchl3	C	T	14: 101,923,128 (GRCm39)		probably benign	Het
Vmn2r111	T	A	17: 22,767,165 (GRCm39)	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,363,082 (GRCm39)	D567E	probably damaging	Het
Vps13c	T	G	9: 67,845,045 (GRCm39)	L2043R	probably damaging	Het
Zan	T	G	5: 137,398,396 (GRCm39)	D4212A	unknown	Het
Zap70	C	T	1: 36,817,832 (GRCm39)	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,321,478 (GRCm39)	M461K	possibly damaging	Het
Zfat	T	G	15: 68,052,211 (GRCm39)	I528L	probably benign	Het
Zfp532	T	G	18: 65,771,834 (GRCm39)	V784G	probably benign	Het

Other mutations in Iscu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1974:Iscu	UTSW	5	113,915,079 (GRCm39)	intron	probably benign
R4972:Iscu	UTSW	5	113,915,037 (GRCm39)	intron	probably benign
R5210:Iscu	UTSW	5	113,915,034 (GRCm39)	nonsense	probably null
R6805:Iscu	UTSW	5	113,913,304 (GRCm39)	missense	probably damaging	1.00
R7235:Iscu	UTSW	5	113,914,943 (GRCm39)	missense	probably benign	0.26
R7922:Iscu	UTSW	5	113,912,410 (GRCm39)	missense	unknown
R7922:Iscu	UTSW	5	113,912,343 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGTCCCCGACTAGAGATC -3'
(R):5'- TTAGCAGTGTGGGAAGGCTC -3'

Sequencing Primer
(F):5'- CTAGAGATCCCTTGGTACACAGTG -3'
(R):5'- TAGTGCACTGTGGCCTCAG -3'

Posted On

2019-05-13