Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Iqcf5'

727532

Institutional Source

Beutler Lab

Gene Symbol

Iqcf5

Ensembl Gene

ENSMUSG00000066382

Gene Name

IQ motif containing F5

Synonyms

1700007L12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106514573-106516010 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106515969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 142 (I142L)

Ref Sequence

ENSEMBL: ENSMUSP00000082194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085113]

AlphaFold

Q9DAL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000085113
AA Change: I142L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082194
Gene: ENSMUSG00000066382
AA Change: I142L

Domain	Start	End	E-Value	Type
IQ	10	32	8.38e-4	SMART
IQ	66	88	9.85e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,252,255	M819V	probably benign	Het
Abca5	T	A	11: 110,277,422	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,564,504	R161C	probably damaging	Het
Aoc3	C	G	11: 101,331,088	P50R	possibly damaging	Het
Atr	G	A	9: 95,914,997	A1698T	probably benign	Het
Caml	T	A	13: 55,631,857	S248T	possibly damaging	Het
Cdh11	C	T	8: 102,658,247	G399S	possibly damaging	Het
Chrna10	G	T	7: 102,112,209	L392I	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Copg1	A	G	6: 87,902,243	I424V	probably damaging	Het
Cwh43	A	T	5: 73,408,286	N65Y	possibly damaging	Het
Defb1	A	G	8: 21,794,470	Y35C	probably damaging	Het
Disp2	T	C	2: 118,790,146	V453A	probably benign	Het
Dpp9	A	G	17: 56,187,458	Y834H	probably damaging	Het
Emsy	A	G	7: 98,613,078	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,398,141	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,499,431	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,545	R258G	probably damaging	Het
Gga2	A	T	7: 122,007,271	M157K	possibly damaging	Het
Gna11	T	C	10: 81,535,084	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,663,027	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,449,857	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,764,983	P4T	possibly damaging	Het
Klhdc9	A	G	1: 171,359,789	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,478,619	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,987,507	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,734,025	N909S	probably benign	Het
Ly75	A	G	2: 60,323,840	S1088P	probably damaging	Het
Mei1	G	A	15: 82,081,897	G240D		Het
Miox	A	T	15: 89,334,500		probably benign	Het
Myo1e	A	G	9: 70,316,642	Y128C	probably damaging	Het
Necab2	T	C	8: 119,462,664	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,557,490	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353	T36A	probably benign	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Nup210l	A	G	3: 90,198,095	T1517A	probably benign	Het
Olfr1197	T	C	2: 88,728,798	K267R	probably damaging	Het
Olfr1198	T	C	2: 88,746,528	Y120C	probably damaging	Het
Olfr1284	T	G	2: 111,379,894	I298R	probably damaging	Het
Olfr573-ps1	C	T	7: 102,942,052	C175Y	probably damaging	Het
Pcnx2	A	T	8: 125,760,853	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,093,752	V35D	possibly damaging	Het
Pde10a	C	A	17: 8,951,538	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,154,138	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,710	V1001E	probably benign	Het
Ripor3	T	A	2: 167,989,726	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,989,258	K330E	probably damaging	Het
Ryr3	T	G	2: 112,833,729	D1759A	probably benign	Het
Scube3	A	G	17: 28,152,440	D43G	probably benign	Het
Sec24b	A	G	3: 129,996,773	I701T	probably damaging	Het
Setd5	G	T	6: 113,151,405	V1440L	probably benign	Het
Sik3	A	G	9: 46,194,844	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,812,864	M473K	probably benign	Het
Spag16	A	G	1: 69,923,683	R330G	probably benign	Het
Spag6	C	A	2: 18,699,236	Q32K	probably benign	Het
Sspo	G	A	6: 48,455,773	G861D	probably damaging	Het
Togaram2	T	A	17: 71,717,370	S850T	probably damaging	Het
Trbv15	A	T	6: 41,141,616	E102V	possibly damaging	Het
Trim43b	G	T	9: 89,091,342	H113N	probably benign	Het
Trpm2	T	A	10: 77,930,555	I877L	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ttn	T	C	2: 76,768,808	I19286V	probably benign	Het
Tubb6	A	G	18: 67,401,601	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,034,837	V167A	probably benign	Het
Vwf	C	A	6: 125,591,707	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,466,890	A58E	probably benign	Het

Other mutations in Iqcf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Iqcf5	APN	9	106515990	makesense	probably null
R6352:Iqcf5	UTSW	9	106515730	missense	possibly damaging	0.57
R7017:Iqcf5	UTSW	9	106515664	missense	possibly damaging	0.90
R7120:Iqcf5	UTSW	9	106515796	missense	probably damaging	1.00
R7988:Iqcf5	UTSW	9	106515821	missense	possibly damaging	0.84
R9728:Iqcf5	UTSW	9	106515969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGGAGTTATACGCTCG -3'
(R):5'- ATACTTCCCCACTGAGGCTC -3'

Sequencing Primer
(F):5'- ATGTGGCACATACGTCATCG -3'
(R):5'- GAGGCTCCTTCTCAGTAGTGC -3'

Posted On

2022-10-06