Mutagenetix > Incidental Mutation

Incidental Mutation 'R3040:Iqcj'

264911

Institutional Source

Beutler Lab

Gene Symbol

Iqcj

Ensembl Gene

ENSMUSG00000051777

Gene Name

IQ motif containing J

Synonyms

MMRRC Submission

040556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3040 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67799553-67963926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67962675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 79 (S79P)

Ref Sequence

ENSEMBL: ENSMUSP00000069544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063263] [ENSMUST00000182006]

AlphaFold

Q8BPW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063263
AA Change: S79P

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

SMART Domains

Protein: ENSMUSP00000069544
Gene: ENSMUSG00000051777
AA Change: S79P

Domain	Start	End	E-Value	Type
Pfam:IQCJ-SCHIP1	4	109	1.9e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182006
AA Change: S79P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: S79P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	A	C	9: 14,484,069 (GRCm39)	V498G	probably benign	Het
Ampd2	A	G	3: 107,983,732 (GRCm39)	Y602H	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Ccar1	G	T	10: 62,592,273 (GRCm39)	H760N	possibly damaging	Het
Cyp2c50	A	G	19: 40,086,570 (GRCm39)	N319S	probably benign	Het
Dcdc2c	G	C	12: 28,602,181 (GRCm39)	A41G	probably damaging	Het
Dzip3	G	A	16: 48,748,687 (GRCm39)	S1083F	probably damaging	Het
Etfdh	C	T	3: 79,512,226 (GRCm39)	R498Q	probably damaging	Het
Fbn2	A	T	18: 58,226,459 (GRCm39)	C772S	probably damaging	Het
Gask1b	T	A	3: 79,794,432 (GRCm39)	I300N	possibly damaging	Het
Gdap2	T	C	3: 100,095,351 (GRCm39)		probably null	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Kcna7	GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC	GGCTGC	7: 45,056,212 (GRCm39)		probably null	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mepe	T	G	5: 104,485,988 (GRCm39)	L376R	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nedd4	T	C	9: 72,577,243 (GRCm39)	F23L	probably benign	Het
Neurl1a	T	C	19: 47,228,270 (GRCm39)	S22P	probably benign	Het
Pramel51	A	T	12: 88,145,118 (GRCm39)	S69R	probably benign	Het
Psmd2	T	C	16: 20,476,317 (GRCm39)	V470A	probably benign	Het
Pyroxd2	G	T	19: 42,723,957 (GRCm39)	Q323K	probably benign	Het
Slf2	A	G	19: 44,969,008 (GRCm39)	D1157G	probably damaging	Het
Styxl1	C	T	5: 135,785,887 (GRCm39)	A197T	probably damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trip12	A	G	1: 84,719,966 (GRCm39)	V309A	probably benign	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Vmn1r122	G	C	7: 20,867,371 (GRCm39)	P228R	probably benign	Het

Other mutations in Iqcj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2152:Iqcj	UTSW	3	67,962,643 (GRCm39)	missense	probably damaging	0.99
R6927:Iqcj	UTSW	3	67,954,624 (GRCm39)	missense	possibly damaging	0.55
R7018:Iqcj	UTSW	3	67,948,580 (GRCm39)	nonsense	probably null
R7883:Iqcj	UTSW	3	67,954,641 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGCGCTTTTCTTTCGAGC -3'
(R):5'- GCTCCCATGCAGCAAATAAG -3'

Sequencing Primer
(F):5'- CTTTCGAGCACAATCTAGCTTACAG -3'
(R):5'- TGCAGCAAATAAGCACCCCTC -3'

Posted On

2015-02-05