Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03005:Iqschfp'

407505

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 #

IGL03005

Quality Score

Status

Chromosome

Chromosomal Location

67799565-68533799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68526010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 395 (Q395K)

Ref Sequence

ENSEMBL: ENSMUSP00000138207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029346] [ENSMUST00000169909] [ENSMUST00000170788] [ENSMUST00000182006] [ENSMUST00000182532] [ENSMUST00000182719] [ENSMUST00000182997] [ENSMUST00000192555]

AlphaFold

A0A088MLT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029346
AA Change: Q423K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: Q423K

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

possibly damaging
Transcript: ENSMUST00000169909
AA Change: Q195K

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: Q195K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170788
AA Change: Q183K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: Q183K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182006
AA Change: Q498K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: Q498K

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

possibly damaging
Transcript: ENSMUST00000182532
AA Change: Q395K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: Q395K

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

possibly damaging
Transcript: ENSMUST00000182719
AA Change: Q395K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: Q395K

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

possibly damaging
Transcript: ENSMUST00000182997
AA Change: Q200K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: Q200K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192555

SMART Domains

Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777

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	388	1.1e-103	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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	A	T	1: 176,894,793 (GRCm39)	V268E	probably damaging	Het
Aoc1l1	T	A	6: 48,953,480 (GRCm39)	Y468*	probably null	Het
Apob	A	G	12: 8,043,059 (GRCm39)		probably benign	Het
Arhgap19	T	C	19: 41,772,856 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,660,632 (GRCm39)	L672P	probably damaging	Het
Cars1	A	G	7: 143,112,906 (GRCm39)	F774L	probably damaging	Het
Cd200r3	T	A	16: 44,773,973 (GRCm39)	S128R	probably damaging	Het
Chd9	A	G	8: 91,738,075 (GRCm39)	N1569S	probably damaging	Het
Chmp7	G	A	14: 69,957,277 (GRCm39)	R294C	probably damaging	Het
Col10a1	A	T	10: 34,271,734 (GRCm39)	I569F	probably damaging	Het
Cspg4	T	A	9: 56,795,772 (GRCm39)	V1169D	probably damaging	Het
Emg1	G	A	6: 124,681,557 (GRCm39)	T229I	probably damaging	Het
Fmo9	C	T	1: 166,502,088 (GRCm39)	S179N	probably benign	Het
Frem1	T	C	4: 82,912,371 (GRCm39)	Y667C	probably damaging	Het
Gpsm2	A	G	3: 108,594,322 (GRCm39)		probably benign	Het
Gsdma	A	T	11: 98,567,085 (GRCm39)	E395V	probably damaging	Het
Gsdmd	C	T	15: 75,739,015 (GRCm39)	T464M	possibly damaging	Het
Lipo3	T	C	19: 33,763,136 (GRCm39)	I36V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,139 (GRCm39)	S199G	probably damaging	Het
Lypla1	C	T	1: 4,902,613 (GRCm39)		probably benign	Het
Mst1r	C	T	9: 107,791,748 (GRCm39)	Q809*	probably null	Het
Mtr	T	A	13: 12,250,335 (GRCm39)		probably benign	Het
Or4a39	G	A	2: 89,237,315 (GRCm39)	T36I	possibly damaging	Het
Pax7	T	A	4: 139,556,007 (GRCm39)	I156F	probably damaging	Het
Pcdhb8	T	A	18: 37,490,587 (GRCm39)	L755Q	probably damaging	Het
Pdzd2	G	A	15: 12,385,351 (GRCm39)	P1140S	probably damaging	Het
Pdzrn4	T	C	15: 92,668,272 (GRCm39)	L808P	probably damaging	Het
Pex1	G	T	5: 3,680,292 (GRCm39)	Q971H	probably null	Het
Pgap6	C	T	17: 26,337,911 (GRCm39)	L432F	probably benign	Het
Pld1	T	A	3: 28,141,402 (GRCm39)	V655E	possibly damaging	Het
Pnpla3	C	T	15: 84,058,469 (GRCm39)	R163W	probably damaging	Het
Rabgef1	T	C	5: 130,237,638 (GRCm39)	L237P	probably damaging	Het
Setbp1	A	T	18: 78,902,340 (GRCm39)	N442K	possibly damaging	Het
Sorl1	T	G	9: 41,968,621 (GRCm39)	D544A	probably damaging	Het
Spire2	C	A	8: 124,090,107 (GRCm39)	P490T	probably benign	Het
Zeb1	T	A	18: 5,767,150 (GRCm39)	S554T	probably benign	Het

Other mutations in Iqschfp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Iqschfp	APN	3	68,533,184 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02