Mutagenetix > Incidental Mutation

Incidental Mutation 'R8339:Iqce'

644793

Institutional Source

Beutler Lab

Gene Symbol

Iqce

Ensembl Gene

ENSMUSG00000036555

Gene Name

IQ motif containing E

Synonyms

1700028P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8339 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140648308-140688158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140660093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 555 (E555G)

Ref Sequence

ENSEMBL: ENSMUSP00000045913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041783] [ENSMUST00000077890]

AlphaFold

Q6PCQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041783
AA Change: E555G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: E555G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	157	190	N/A	INTRINSIC
coiled coil region	212	266	N/A	INTRINSIC
coiled coil region	287	323	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
coiled coil region	398	491	N/A	INTRINSIC
IQ	552	574	1.36e-3	SMART
low complexity region	579	598	N/A	INTRINSIC
IQ	614	636	1.63e-1	SMART
low complexity region	734	753	N/A	INTRINSIC
low complexity region	754	766	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077890
AA Change: E510G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: E510G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
coiled coil region	112	145	N/A	INTRINSIC
coiled coil region	167	221	N/A	INTRINSIC
coiled coil region	242	278	N/A	INTRINSIC
low complexity region	300	317	N/A	INTRINSIC
coiled coil region	353	446	N/A	INTRINSIC
IQ	507	529	1.36e-3	SMART
low complexity region	534	553	N/A	INTRINSIC
IQ	569	591	1.63e-1	SMART
low complexity region	628	647	N/A	INTRINSIC
low complexity region	717	736	N/A	INTRINSIC
low complexity region	737	749	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121457
Gene: ENSMUSG00000036555
AA Change: E188G

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
coiled coil region	88	181	N/A	INTRINSIC
IQ	186	208	1.36e-3	SMART
low complexity region	213	232	N/A	INTRINSIC
IQ	248	270	1.63e-1	SMART
low complexity region	312	331	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,831 (GRCm39)	F1549S	probably damaging	Het
Ablim1	T	C	19: 57,032,281 (GRCm39)	E710G	probably benign	Het
Adam34	A	T	8: 44,103,640 (GRCm39)	H668Q	probably benign	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Camsap1	A	G	2: 25,872,817 (GRCm39)	I45T	possibly damaging	Het
Ccdc88c	A	T	12: 100,907,399 (GRCm39)	L984*	probably null	Het
Ccr1	T	G	9: 123,763,763 (GRCm39)	N256H	probably damaging	Het
Cep295	A	T	9: 15,236,846 (GRCm39)	D254E		Het
Cfhr4	T	A	1: 139,660,157 (GRCm39)	E656V	probably damaging	Het
Cmya5	G	T	13: 93,228,142 (GRCm39)	Y2315*	probably null	Het
Cspp1	G	T	1: 10,183,892 (GRCm39)	R839I	probably damaging	Het
Dbn1	A	T	13: 55,629,982 (GRCm39)	D153E	probably benign	Het
Dnah7a	G	T	1: 53,724,178 (GRCm39)	L96I	probably benign	Het
G6pc1	A	G	11: 101,267,314 (GRCm39)	T255A	possibly damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Il12a	T	A	3: 68,599,438 (GRCm39)	C33*	probably null	Het
Itpr2	T	C	6: 146,214,396 (GRCm39)	M1484V	probably benign	Het
Klc2	A	G	19: 5,159,562 (GRCm39)	S518P	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2b7	A	T	13: 21,739,996 (GRCm39)	N65K	probably damaging	Het
Or8b47	T	C	9: 38,435,717 (GRCm39)	S230P	probably damaging	Het
Or9g4b	C	A	2: 85,615,876 (GRCm39)	T7N	probably damaging	Het
Otogl	T	A	10: 107,625,396 (GRCm39)	I1516F	probably damaging	Het
Otogl	G	T	10: 107,625,397 (GRCm39)	S1515R	probably benign	Het
Pacs1	A	T	19: 5,192,651 (GRCm39)	V627E	probably damaging	Het
Ptprb	A	C	10: 116,119,356 (GRCm39)	R163S	probably benign	Het
Ralgps2	G	T	1: 156,649,008 (GRCm39)	P432Q	probably null	Het
Rgl3	T	C	9: 21,898,825 (GRCm39)	T205A	probably benign	Het
Rock2	G	T	12: 17,024,861 (GRCm39)	W1213L	probably damaging	Het
Satb1	T	A	17: 52,089,977 (GRCm39)	H290L	probably damaging	Het
Scn1a	T	C	2: 66,116,373 (GRCm39)	Y422C	probably damaging	Het
Sgcg	T	A	14: 61,469,966 (GRCm39)	M132L	probably benign	Het
Shank1	A	G	7: 43,975,589 (GRCm39)	S478G	unknown	Het
Slc18a1	A	T	8: 69,518,273 (GRCm39)	M247K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,724 (GRCm39)	I417V	probably benign	Het
Slc9b2	A	G	3: 135,030,363 (GRCm39)	M227V	possibly damaging	Het
Tcf20	C	A	15: 82,736,877 (GRCm39)	V1525L	probably benign	Het
Tril	G	A	6: 53,794,918 (GRCm39)	T768I	possibly damaging	Het
Xxylt1	T	C	16: 30,899,858 (GRCm39)	H99R	possibly damaging	Het
Zfp653	T	C	9: 21,969,213 (GRCm39)	E351G	probably damaging	Het

Other mutations in Iqce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Iqce	APN	5	140,663,883 (GRCm39)	nonsense	probably null
IGL01862:Iqce	APN	5	140,685,480 (GRCm39)	missense	possibly damaging	0.93
R0255:Iqce	UTSW	5	140,651,957 (GRCm39)	missense	possibly damaging	0.62
R0492:Iqce	UTSW	5	140,660,990 (GRCm39)	missense	probably damaging	0.99
R0580:Iqce	UTSW	5	140,651,156 (GRCm39)	missense	possibly damaging	0.85
R0592:Iqce	UTSW	5	140,671,862 (GRCm39)	splice site	probably null
R2177:Iqce	UTSW	5	140,677,348 (GRCm39)	splice site	probably benign
R4849:Iqce	UTSW	5	140,679,214 (GRCm39)	missense	possibly damaging	0.84
R4979:Iqce	UTSW	5	140,677,376 (GRCm39)	missense	probably damaging	1.00
R5007:Iqce	UTSW	5	140,661,003 (GRCm39)	missense	possibly damaging	0.48
R5341:Iqce	UTSW	5	140,675,814 (GRCm39)	missense	possibly damaging	0.95
R5558:Iqce	UTSW	5	140,657,560 (GRCm39)	critical splice donor site	probably null
R5765:Iqce	UTSW	5	140,651,895 (GRCm39)	missense	probably damaging	0.99
R5910:Iqce	UTSW	5	140,687,973 (GRCm39)	unclassified	probably benign
R6354:Iqce	UTSW	5	140,662,090 (GRCm39)	splice site	probably null
R6732:Iqce	UTSW	5	140,660,990 (GRCm39)	missense	probably benign
R7050:Iqce	UTSW	5	140,651,846 (GRCm39)	missense	possibly damaging	0.76
R7238:Iqce	UTSW	5	140,675,713 (GRCm39)	nonsense	probably null
R7567:Iqce	UTSW	5	140,671,830 (GRCm39)	missense	probably damaging	1.00
R7735:Iqce	UTSW	5	140,663,839 (GRCm39)	missense	probably benign	0.00
R8951:Iqce	UTSW	5	140,675,578 (GRCm39)	missense	probably damaging	1.00
R9043:Iqce	UTSW	5	140,651,810 (GRCm39)	missense	probably benign	0.01
R9348:Iqce	UTSW	5	140,677,380 (GRCm39)	missense	probably damaging	1.00
R9571:Iqce	UTSW	5	140,651,862 (GRCm39)	missense	possibly damaging	0.65
R9630:Iqce	UTSW	5	140,666,591 (GRCm39)	missense	possibly damaging	0.63
R9734:Iqce	UTSW	5	140,678,564 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGCAAGTTCAGTGATGGGC -3'
(R):5'- TTATCCCGTCTAGCAGAGCAC -3'

Sequencing Primer
(F):5'- AAGTTCAGTGATGGGCCCAGTC -3'
(R):5'- AAGCTGTCCCAGATATGGTCC -3'

Posted On

2020-09-02