Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:AF366264'

553946

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13837996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 32 (I32L)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071308]

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: I32L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: I32L

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	322	501	1.9e-45	PFAM

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312 (GRCm38)	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694 (GRCm38)	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987 (GRCm38)	K138E	probably benign	Het
Acly	A	G	11: 100,483,782 (GRCm38)	V805A	possibly damaging	Het
Apcdd1	T	C	18: 62,951,845 (GRCm38)	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930 (GRCm38)	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686 (GRCm38)	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280 (GRCm38)	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296 (GRCm38)	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322 (GRCm38)	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316 (GRCm38)	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299 (GRCm38)	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734 (GRCm38)	C573*	probably null	Het
Emcn	A	T	3: 137,417,094 (GRCm38)	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144 (GRCm38)	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167 (GRCm38)	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675 (GRCm38)	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690 (GRCm38)	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416 (GRCm38)	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434 (GRCm38)	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854 (GRCm38)	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902 (GRCm38)	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602 (GRCm38)	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984 (GRCm38)	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949 (GRCm38)	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514 (GRCm38)	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822 (GRCm38)	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577 (GRCm38)	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107 (GRCm38)	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511 (GRCm38)	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157 (GRCm38)	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936 (GRCm38)	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032 (GRCm38)	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272 (GRCm38)	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608 (GRCm38)	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487 (GRCm38)	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786 (GRCm38)	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472 (GRCm38)	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552 (GRCm38)	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119 (GRCm38)	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887 (GRCm38)	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406 (GRCm38)		probably benign	Het
Rxfp3	C	T	15: 11,036,777 (GRCm38)	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683 (GRCm38)	S201R	probably benign	Het
Sell	A	G	1: 164,065,607 (GRCm38)	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059 (GRCm38)	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895 (GRCm38)	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355 (GRCm38)	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550 (GRCm38)	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381 (GRCm38)	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539 (GRCm38)	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350 (GRCm38)	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803 (GRCm38)	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008 (GRCm38)	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252 (GRCm38)	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976 (GRCm38)	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550 (GRCm38)	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022 (GRCm38)	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216 (GRCm38)	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002 (GRCm38)	N401K		Het
Ythdc2	G	T	18: 44,833,122 (GRCm38)	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450 (GRCm38)	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239 (GRCm38)	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221 (GRCm38)	K148E	possibly damaging	Het

Other mutations in AF366264

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:AF366264	APN	8	13,837,704 (GRCm38)	missense	probably benign	0.03
IGL02647:AF366264	APN	8	13,836,979 (GRCm38)	missense	probably damaging	0.96
IGL03118:AF366264	APN	8	13,838,096 (GRCm38)	utr 5 prime	probably benign
FR4342:AF366264	UTSW	8	13,837,613 (GRCm38)	missense	probably benign	0.00
R0636:AF366264	UTSW	8	13,837,870 (GRCm38)	missense	probably benign	0.00
R1796:AF366264	UTSW	8	13,836,816 (GRCm38)	nonsense	probably null
R1913:AF366264	UTSW	8	13,837,143 (GRCm38)	missense	probably benign	0.16
R2353:AF366264	UTSW	8	13,836,951 (GRCm38)	missense	probably damaging	1.00
R2944:AF366264	UTSW	8	13,837,212 (GRCm38)	missense	probably damaging	1.00
R3714:AF366264	UTSW	8	13,836,736 (GRCm38)	missense	probably benign	0.04
R4222:AF366264	UTSW	8	13,838,061 (GRCm38)	missense	probably benign
R4628:AF366264	UTSW	8	13,836,625 (GRCm38)	missense	probably damaging	1.00
R4801:AF366264	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4802:AF366264	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4836:AF366264	UTSW	8	13,838,007 (GRCm38)	missense	probably benign
R5143:AF366264	UTSW	8	13,836,844 (GRCm38)	missense	possibly damaging	0.87
R5637:AF366264	UTSW	8	13,837,713 (GRCm38)	missense	possibly damaging	0.46
R5930:AF366264	UTSW	8	13,837,263 (GRCm38)	missense	probably benign	0.06
R6540:AF366264	UTSW	8	13,837,573 (GRCm38)	missense	probably benign	0.07
R6556:AF366264	UTSW	8	13,837,690 (GRCm38)	nonsense	probably null
R6724:AF366264	UTSW	8	13,837,083 (GRCm38)	missense	probably damaging	1.00
R7131:AF366264	UTSW	8	13,836,982 (GRCm38)	missense	probably damaging	0.98
R7660:AF366264	UTSW	8	13,837,995 (GRCm38)	missense	probably benign	0.06
R8198:AF366264	UTSW	8	13,837,056 (GRCm38)	missense	probably benign	0.11
R8483:AF366264	UTSW	8	13,838,229 (GRCm38)	start gained	probably benign
R9090:AF366264	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
R9271:AF366264	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
X0020:AF366264	UTSW	8	13,836,847 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCTTCGGTCAACTCTAGG -3'
(R):5'- CAGAGCCAGGTATAAGGTTGC -3'

Sequencing Primer
(F):5'- CCTTCGGTCAACTCTAGGGGTTTTAG -3'
(R):5'- AGCCAGGTATAAGGTTGCTTTCAC -3'

Posted On

2019-05-15