Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:Iqca1'

229041

Institutional Source

Beutler Lab

Gene Symbol

Iqca1

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain 1

Synonyms

4930465P12Rik, 4930585L22Rik, Iqca

MMRRC Submission

040070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89969854-90081123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90057953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 249 (S249G)

Ref Sequence

ENSEMBL: ENSMUSP00000148643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]

AlphaFold

Q9CUL5

Predicted Effect

probably benign
Transcript: ENSMUST00000113094
AA Change: S249G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: S249G

Domain	Start	End	E-Value	Type
IQ	205	227	6.97e0	SMART
coiled coil region	340	380	N/A	INTRINSIC
coiled coil region	425	450	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
AAA	567	706	1.08e-3	SMART
low complexity region	812	829	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211999

Predicted Effect

probably benign
Transcript: ENSMUST00000212394
AA Change: S249G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Adh6a	T	A	3: 138,030,998 (GRCm39)	D162E	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI182371	A	G	2: 34,976,441 (GRCm39)		probably null	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Ap3b2	A	G	7: 81,113,522 (GRCm39)	S896P	unknown	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atp11b	T	A	3: 35,893,223 (GRCm39)	Y859N	probably damaging	Het
Bag3	T	A	7: 128,147,498 (GRCm39)	V371D	probably damaging	Het
Bhmt	T	C	13: 93,754,120 (GRCm39)	Y363C	probably benign	Het
Btbd6	T	C	12: 112,941,755 (GRCm39)	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,227,632 (GRCm39)	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,553,537 (GRCm39)	M206V	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ece1	A	T	4: 137,685,393 (GRCm39)	M628L	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Erich6b	T	C	14: 75,896,351 (GRCm39)	I79T	probably benign	Het
F7	T	A	8: 13,085,183 (GRCm39)	V403D	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fbxw28	T	C	9: 109,157,292 (GRCm39)	K319E	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Flg2	A	G	3: 93,109,538 (GRCm39)	E522G	unknown	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm7361	A	T	5: 26,467,149 (GRCm39)	D256V	probably damaging	Het
Hpse	A	G	5: 100,846,797 (GRCm39)	S211P	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl42	T	A	6: 147,003,161 (GRCm39)	W312R	probably damaging	Het
L3mbtl4	C	A	17: 68,732,687 (GRCm39)	Q56K	probably benign	Het
Lce1k	G	A	3: 92,714,164 (GRCm39)	Q7*	probably null	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Mbd1	C	A	18: 74,409,955 (GRCm39)	T373K	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nbas	T	A	12: 13,616,158 (GRCm39)	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,341,206 (GRCm39)	F29L	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or4k45	A	G	2: 111,395,057 (GRCm39)	I244T	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or5p73	T	A	7: 108,064,875 (GRCm39)	C115S	possibly damaging	Het
Orc2	A	G	1: 58,508,854 (GRCm39)	V431A	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pigr	G	A	1: 130,778,617 (GRCm39)	G767D	probably benign	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,565,695 (GRCm39)	E50G	probably damaging	Het
Prph	A	T	15: 98,954,014 (GRCm39)	D196V	probably damaging	Het
Rapgef5	C	A	12: 117,547,739 (GRCm39)	C234*	probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc22a16	A	G	10: 40,461,016 (GRCm39)	I273V	possibly damaging	Het
Snx13	T	C	12: 35,188,065 (GRCm39)	M781T	possibly damaging	Het
Spag17	A	G	3: 99,920,524 (GRCm39)	I420V	probably benign	Het
Synj1	T	C	16: 90,788,537 (GRCm39)		probably null	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tcaf2	T	A	6: 42,604,981 (GRCm39)	N601I	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 127,861,505 (GRCm39)	D872G	probably benign	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Trpd52l3	T	C	19: 29,981,362 (GRCm39)	V39A	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Iqca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Iqca1	APN	1	89,973,379 (GRCm39)	missense	probably benign	0.10
IGL01367:Iqca1	APN	1	89,998,350 (GRCm39)	splice site	probably benign
IGL01545:Iqca1	APN	1	89,973,364 (GRCm39)	missense	probably benign
IGL01797:Iqca1	APN	1	90,072,541 (GRCm39)	critical splice donor site	probably null
IGL02098:Iqca1	APN	1	89,975,663 (GRCm39)	missense	probably damaging	0.96
IGL02194:Iqca1	APN	1	89,973,385 (GRCm39)	missense	probably benign	0.16
IGL03230:Iqca1	APN	1	90,072,724 (GRCm39)	missense	probably damaging	1.00
IGL03259:Iqca1	APN	1	89,980,156 (GRCm39)	missense	probably damaging	1.00
IGL03372:Iqca1	APN	1	90,072,691 (GRCm39)	missense	possibly damaging	0.80
R0383:Iqca1	UTSW	1	90,070,429 (GRCm39)	missense	probably damaging	1.00
R0610:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0685:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0798:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0799:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0800:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0801:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0825:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0826:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0827:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0862:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0863:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0864:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0960:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0961:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0962:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0963:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1101:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1344:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1523:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1646:Iqca1	UTSW	1	90,067,760 (GRCm39)	missense	probably damaging	0.98
R1682:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1742:Iqca1	UTSW	1	90,025,773 (GRCm39)	missense	probably benign	0.01
R1774:Iqca1	UTSW	1	90,008,625 (GRCm39)	missense	probably benign	0.02
R1775:Iqca1	UTSW	1	90,009,138 (GRCm39)	missense	probably damaging	1.00
R2011:Iqca1	UTSW	1	89,973,348 (GRCm39)	missense	probably benign	0.00
R2156:Iqca1	UTSW	1	90,017,238 (GRCm39)	missense	possibly damaging	0.78
R2186:Iqca1	UTSW	1	90,009,066 (GRCm39)	missense	probably benign	0.06
R3872:Iqca1	UTSW	1	90,017,203 (GRCm39)	missense	probably damaging	1.00
R4308:Iqca1	UTSW	1	90,072,619 (GRCm39)	missense	probably damaging	1.00
R4578:Iqca1	UTSW	1	90,001,472 (GRCm39)	missense	probably damaging	0.98
R4737:Iqca1	UTSW	1	90,005,544 (GRCm39)	missense	probably damaging	0.99
R4867:Iqca1	UTSW	1	90,017,226 (GRCm39)	missense	probably benign	0.00
R4884:Iqca1	UTSW	1	90,067,759 (GRCm39)	missense	probably benign	0.10
R4887:Iqca1	UTSW	1	89,973,423 (GRCm39)	missense	probably damaging	1.00
R5352:Iqca1	UTSW	1	90,057,918 (GRCm39)	missense	probably benign	0.00
R5733:Iqca1	UTSW	1	89,998,257 (GRCm39)	missense	probably damaging	0.97
R5838:Iqca1	UTSW	1	90,072,667 (GRCm39)	missense	probably benign	0.22
R5951:Iqca1	UTSW	1	90,067,819 (GRCm39)	splice site	probably null
R5957:Iqca1	UTSW	1	90,008,670 (GRCm39)	missense	probably damaging	1.00
R6696:Iqca1	UTSW	1	90,057,922 (GRCm39)	missense	probably benign
R7240:Iqca1	UTSW	1	89,998,272 (GRCm39)	missense	possibly damaging	0.88
R7769:Iqca1	UTSW	1	90,005,532 (GRCm39)	missense	possibly damaging	0.82
R7841:Iqca1	UTSW	1	89,987,337 (GRCm39)	missense
R8069:Iqca1	UTSW	1	89,973,466 (GRCm39)	missense	probably damaging	0.96
R8103:Iqca1	UTSW	1	89,987,330 (GRCm39)	missense
R8932:Iqca1	UTSW	1	90,067,750 (GRCm39)	missense	probably damaging	1.00
R8963:Iqca1	UTSW	1	90,067,649 (GRCm39)	missense	probably benign	0.02
R9055:Iqca1	UTSW	1	89,998,335 (GRCm39)	missense	probably benign	0.02
R9168:Iqca1	UTSW	1	90,065,937 (GRCm39)	missense	probably damaging	0.98
R9342:Iqca1	UTSW	1	90,072,688 (GRCm39)	missense	probably damaging	0.99
R9647:Iqca1	UTSW	1	89,998,258 (GRCm39)	missense	probably benign	0.15
Z1176:Iqca1	UTSW	1	89,973,447 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CCTGTCACCTGCACTCAATG -3'
(R):5'- ACACACAGAGCGAGTTCTTTG -3'

Sequencing Primer
(F):5'- AATGAACCACTGCCGGATCTGG -3'
(R):5'- CGAGTTCTTTGGGTGCTCACAC -3'

Posted On

2014-09-17