Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:Iqcg'

487643

Institutional Source

Beutler Lab

Gene Symbol

Iqcg

Ensembl Gene

ENSMUSG00000035578

Gene Name

IQ motif containing G

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33012683-33056218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33030923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 226 (Y226C)

Ref Sequence

ENSEMBL: ENSMUSP00000110752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115100]

AlphaFold

Q80W32

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105610

Predicted Effect

probably damaging
Transcript: ENSMUST00000115100
AA Change: Y226C

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

SMART Domains

Protein: ENSMUSP00000110752
Gene: ENSMUSG00000035578
AA Change: Y226C

Domain	Start	End	E-Value	Type
low complexity region	3	50	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
coiled coil region	248	329	N/A	INTRINSIC
IQ	371	393	1.54e-2	SMART
low complexity region	399	419	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231235

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous male mice are infertile and have very low epididymal sperm concentration with low motility, predominantly appearing as sperm heads without tails or with short tails. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Iqcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Iqcg	APN	16	33035600	missense	possibly damaging	0.90
IGL01155:Iqcg	APN	16	33040875	missense	probably damaging	0.99
IGL01602:Iqcg	APN	16	33016978	unclassified	probably benign
IGL01605:Iqcg	APN	16	33016978	unclassified	probably benign
IGL02243:Iqcg	APN	16	33045592	missense	probably damaging	1.00
IGL02328:Iqcg	APN	16	33019506	missense	probably benign	0.00
IGL02490:Iqcg	APN	16	33035567	nonsense	probably null
IGL03297:Iqcg	APN	16	33035632	splice site	probably benign
R0038:Iqcg	UTSW	16	33045642	missense	probably benign	0.03
R0453:Iqcg	UTSW	16	33049843	splice site	probably benign
R0719:Iqcg	UTSW	16	33040845	missense	probably benign	0.26
R1191:Iqcg	UTSW	16	33049943	missense	probably benign	0.43
R1544:Iqcg	UTSW	16	33045525	missense	probably benign	0.01
R2292:Iqcg	UTSW	16	33049883	missense	probably benign	0.25
R3725:Iqcg	UTSW	16	33020539	splice site	probably null
R3726:Iqcg	UTSW	16	33029041	missense	probably damaging	1.00
R3732:Iqcg	UTSW	16	33053626	unclassified	probably benign
R3732:Iqcg	UTSW	16	33053626	unclassified	probably benign
R3733:Iqcg	UTSW	16	33053626	unclassified	probably benign
R3734:Iqcg	UTSW	16	33053626	unclassified	probably benign
R3770:Iqcg	UTSW	16	33050008	synonymous	silent
R4296:Iqcg	UTSW	16	33016975	unclassified	probably benign
R4409:Iqcg	UTSW	16	33045518	critical splice donor site	probably null
R4410:Iqcg	UTSW	16	33030816	missense	possibly damaging	0.95
R4429:Iqcg	UTSW	16	33019490	missense	probably benign	0.02
R4603:Iqcg	UTSW	16	33040764	missense	probably null	0.68
R4603:Iqcg	UTSW	16	33040763	critical splice donor site	probably null
R4979:Iqcg	UTSW	16	33019514	missense	probably damaging	1.00
R5672:Iqcg	UTSW	16	33019508	missense	probably damaging	0.99
R6965:Iqcg	UTSW	16	33030804	missense	probably benign	0.06
R8135:Iqcg	UTSW	16	33029024	missense	probably benign	0.20
R9260:Iqcg	UTSW	16	33035603	nonsense	probably null
R9505:Iqcg	UTSW	16	33040877	missense	probably benign	0.42
Z1177:Iqcg	UTSW	16	33029020	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGCCTAATGTAGCACAAGT -3'
(R):5'- TTTATTATCCTGCGTGGGAGAA -3'

Sequencing Primer
(F):5'- GCCTAATGTAGCACAAGTTACCTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2017-10-10