Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00956:Iqschfp'

278119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqschfp

Ensembl Gene

ENSMUSG00000102422

Gene Name

Iqcj and Schip1 fusion protein

Synonyms

Gm21949, IQCJ-SCHIP1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00956

Quality Score

Status

Chromosome

Chromosomal Location

67799565-68533799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68533184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 255 (A255E)

Ref Sequence

ENSEMBL: ENSMUSP00000129152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029346] [ENSMUST00000169909] [ENSMUST00000170788] [ENSMUST00000182006] [ENSMUST00000182532] [ENSMUST00000182719] [ENSMUST00000182997]

AlphaFold

A0A088MLT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029346
AA Change: A483E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: A483E

Domain	Start	End	E-Value	Type
low complexity region	33	49	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
low complexity region	95	113	N/A	INTRINSIC
low complexity region	123	137	N/A	INTRINSIC
low complexity region	186	198	N/A	INTRINSIC
Pfam:SCHIP-1	252	481	3.1e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169909
AA Change: A255E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: A255E

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	20	256	4.3e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170788
AA Change: A243E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: A243E

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	8	244	3e-155	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182006
AA Change: A558E

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: A558E

Domain	Start	End	E-Value	Type
Pfam:IQ-like	1	97	1e-54	PFAM
low complexity region	108	124	N/A	INTRINSIC
low complexity region	129	142	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	261	273	N/A	INTRINSIC
Pfam:SCHIP-1	323	559	9.8e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182532
AA Change: A455E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: A455E

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	26	39	N/A	INTRINSIC
low complexity region	67	85	N/A	INTRINSIC
low complexity region	95	109	N/A	INTRINSIC
low complexity region	158	170	N/A	INTRINSIC
Pfam:SCHIP-1	220	456	6.6e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182719
AA Change: A455E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: A455E

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	26	39	N/A	INTRINSIC
low complexity region	67	85	N/A	INTRINSIC
low complexity region	95	109	N/A	INTRINSIC
low complexity region	158	170	N/A	INTRINSIC
Pfam:SCHIP-1	220	456	6.6e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182997
AA Change: A260E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: A260E

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	25	261	8.4e-155	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (Iqcj) and schwannomin interacting protein 1 (Schip1) genes. This locus produces a transcript that is composed of in-frame exons from each individual gene. The resulting fusion protein is thought to be a component of the multimolecular complexes of axon initial segments and nodes of Ranvier, and it may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdhr2	G	T	13: 54,866,156 (GRCm39)	V319F	probably damaging	Het
Chac2	A	G	11: 30,936,225 (GRCm39)	S8P	probably damaging	Het
Clec4b2	T	A	6: 123,179,110 (GRCm39)	Y137*	probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Duox1	G	T	2: 122,153,787 (GRCm39)	R370L	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Iigp1c	A	C	18: 60,379,262 (GRCm39)	T266P	probably damaging	Het
Kcnh7	G	A	2: 62,607,983 (GRCm39)	R533C	probably damaging	Het
Nckap5	A	C	1: 125,952,755 (GRCm39)	L1266V	probably damaging	Het
Opcml	A	G	9: 28,586,624 (GRCm39)	N121S	possibly damaging	Het
Rad54b	T	A	4: 11,597,833 (GRCm39)	N239K	probably damaging	Het
Rp1	T	C	1: 4,422,435 (GRCm39)	D215G	probably damaging	Het
Scaf8	T	C	17: 3,221,422 (GRCm39)	I303T	unknown	Het
Slc35f3	G	A	8: 127,108,963 (GRCm39)	A171T	probably damaging	Het
Tlk2	T	A	11: 105,138,418 (GRCm39)	I322N	probably benign	Het
Tubb4a	A	G	17: 57,393,072 (GRCm39)	V66A	probably benign	Het
Ubxn2a	C	T	12: 4,933,956 (GRCm39)	A152T	probably benign	Het
Ush2a	A	T	1: 188,485,719 (GRCm39)	D2943V	probably damaging	Het
Wdr62	A	G	7: 29,960,764 (GRCm39)	V55A	probably damaging	Het
Zfp609	A	G	9: 65,610,045 (GRCm39)	Y973H	probably benign	Het

Other mutations in Iqschfp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03005:Iqschfp	APN	3	68,526,010 (GRCm39)	missense	possibly damaging	0.85

Posted On

2015-04-16