Mutagenetix > Incidental Mutation

Incidental Mutation 'R9090:AF366264'

690901

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R9090 (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 C at 13836697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 465 (T465A)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

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

AlphaFold

G3X9P9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071308
AA Change: T465A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: T465A

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,011,114 (GRCm38)	S819T	probably damaging	Het
Abca13	A	T	11: 9,291,698 (GRCm38)	D1187V	probably damaging	Het
Ak9	C	A	10: 41,424,627 (GRCm38)	T1611K	unknown	Het
Als2	G	T	1: 59,203,030 (GRCm38)	T622K	probably benign	Het
Ankrd40	G	A	11: 94,334,436 (GRCm38)	A98T	probably benign	Het
Ap1b1	T	C	11: 5,023,174 (GRCm38)	L339P	probably damaging	Het
Appl1	A	C	14: 26,947,127 (GRCm38)	H363Q	probably benign	Het
Atf6	T	C	1: 170,794,676 (GRCm38)	N459D	probably damaging	Het
Ccdc129	G	T	6: 55,967,066 (GRCm38)	R417L	probably benign	Het
Ccdc6	A	T	10: 70,189,163 (GRCm38)	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486 (GRCm38)	Q84L	probably damaging	Het
Cct4	A	G	11: 23,001,389 (GRCm38)	I348V	probably benign	Het
Cd300ld2	A	G	11: 115,013,724 (GRCm38)	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,949,217 (GRCm38)	E131K	probably damaging	Het
Cdon	A	G	9: 35,491,879 (GRCm38)	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,281,574 (GRCm38)	R678*	probably null	Het
Chst3	T	A	10: 60,185,643 (GRCm38)	S461C	probably damaging	Het
Clk1	A	G	1: 58,420,153 (GRCm38)	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,513,305 (GRCm38)	D313V	possibly damaging	Het
Dap3	T	C	3: 88,933,606 (GRCm38)	T75A	probably benign	Het
Dnaaf1	T	A	8: 119,597,653 (GRCm38)	F631L	probably benign	Het
Dnah14	A	T	1: 181,769,760 (GRCm38)	N3549I	probably benign	Het
Dnah17	A	T	11: 118,041,044 (GRCm38)	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,841,500 (GRCm38)	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,598,834 (GRCm38)	C259*	probably null	Het
Dqx1	A	G	6: 83,059,043 (GRCm38)	T119A	probably benign	Het
Dync1h1	G	T	12: 110,616,876 (GRCm38)	R469L	probably benign	Het
Eno4	C	T	19: 58,962,828 (GRCm38)	A424V	probably benign	Het
Fads1	T	A	19: 10,185,798 (GRCm38)	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,223,506 (GRCm38)	T303M	probably damaging	Het
Fam189a2	A	T	19: 23,994,857 (GRCm38)	I161N	possibly damaging	Het
Fam71a	A	G	1: 191,162,956 (GRCm38)	S497P	probably damaging	Het
Fbxw20	C	T	9: 109,221,355 (GRCm38)	D401N	probably benign	Het
Fcho1	T	A	8: 71,710,424 (GRCm38)	T654S	possibly damaging	Het
Flad1	C	A	3: 89,408,551 (GRCm38)	E235*	probably null	Het
Flrt2	G	T	12: 95,779,133 (GRCm38)	A82S	probably benign	Het
Gabrg3	A	T	7: 57,179,638 (GRCm38)	S124T	probably benign	Het
Galt	C	T	4: 41,756,777 (GRCm38)	T139I	probably benign	Het
Gfod1	T	C	13: 43,303,385 (GRCm38)	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,779,991 (GRCm38)	I63T	possibly damaging	Het
Gm15448	T	A	7: 3,816,998 (GRCm38)	E640V	unknown	Het
Gm49359	A	G	13: 62,455,053 (GRCm38)	V111A	probably benign	Het
Gpank1	C	T	17: 35,121,758 (GRCm38)		probably benign	Het
Hck	T	C	2: 153,131,265 (GRCm38)	L156P	probably damaging	Het
Hcn3	G	T	3: 89,149,960 (GRCm38)	R444S	probably damaging	Het
Hephl1	T	C	9: 15,076,940 (GRCm38)	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,756,558 (GRCm38)	I876T	probably damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196 (GRCm38)		probably benign	Het
Itga9	T	A	9: 118,671,791 (GRCm38)	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Klk11	C	T	7: 43,776,530 (GRCm38)	L32F	probably benign	Het
Lta4h	A	G	10: 93,474,550 (GRCm38)	S427G	probably benign	Het
Lxn	T	A	3: 67,461,318 (GRCm38)	I122F	probably damaging	Het
Lyz1	A	G	10: 117,288,587 (GRCm38)	V148A	possibly damaging	Het
Mael	G	T	1: 166,204,855 (GRCm38)	Q326K	probably benign	Het
Magi3	T	C	3: 104,015,948 (GRCm38)	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,722,487 (GRCm38)	G929V	probably benign	Het
Mcoln1	A	G	8: 3,505,771 (GRCm38)	Y22C	probably damaging	Het
Mier3	G	T	13: 111,691,336 (GRCm38)	M45I	probably benign	Het
Mrpl1	T	C	5: 96,223,887 (GRCm38)	V91A	probably damaging	Het
Myo7a	T	C	7: 98,091,074 (GRCm38)	H571R	probably benign	Het
Myom1	T	A	17: 71,067,330 (GRCm38)	W601R	probably damaging	Het
Myom3	C	T	4: 135,778,168 (GRCm38)	T456I	probably benign	Het
Nags	A	T	11: 102,146,758 (GRCm38)	H225L	probably benign	Het
Ncaph	C	A	2: 127,116,634 (GRCm38)	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897 (GRCm38)	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,562,519 (GRCm38)	M698L	probably benign	Het
Nmur2	A	C	11: 56,040,482 (GRCm38)	I134M	probably benign	Het
Nrp2	A	C	1: 62,745,511 (GRCm38)	E273A	probably benign	Het
Nup85	A	G	11: 115,577,961 (GRCm38)	D210G	possibly damaging	Het
Obscn	A	G	11: 59,115,817 (GRCm38)	F1173S	probably damaging	Het
Olfr206	A	T	16: 59,344,782 (GRCm38)	C306*	probably null	Het
Otogl	T	A	10: 107,817,113 (GRCm38)	E1126V	probably null	Het
Pfkl	T	C	10: 77,997,592 (GRCm38)	I259V	probably benign	Het
Phkg1	A	T	5: 129,865,022 (GRCm38)	Y291N	probably benign	Het
Piezo2	T	G	18: 63,030,379 (GRCm38)	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,075,719 (GRCm38)	V1408L	probably damaging	Het
Plekhg3	A	G	12: 76,575,920 (GRCm38)	T646A	probably benign	Het
Plk5	C	G	10: 80,357,996 (GRCm38)	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,262,363 (GRCm38)	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235 (GRCm38)	Y270*	probably null	Het
Rbm15	T	C	3: 107,331,996 (GRCm38)	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,465,853 (GRCm38)	F76L		Het
Rdh19	T	C	10: 127,860,273 (GRCm38)	L298P	probably damaging	Het
Rims1	T	A	1: 22,428,522 (GRCm38)	H57L		Het
Rlf	T	C	4: 121,147,554 (GRCm38)	T1520A	probably benign	Het
Rnase1	T	A	14: 51,145,507 (GRCm38)	H130L	possibly damaging	Het
Samd8	T	A	14: 21,792,501 (GRCm38)	M360K	probably damaging	Het
Samhd1	A	G	2: 157,114,285 (GRCm38)	L329P	probably damaging	Het
Scube1	C	T	15: 83,610,193 (GRCm38)	E878K	probably damaging	Het
Sema3b	T	C	9: 107,598,955 (GRCm38)	Y689C	probably damaging	Het
Sh3pxd2b	A	T	11: 32,423,361 (GRCm38)	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,089,849 (GRCm38)	C583Y	probably damaging	Het
Smg1	A	C	7: 118,212,563 (GRCm38)	V88G	unknown	Het
Spata24	T	A	18: 35,657,001 (GRCm38)	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,417,357 (GRCm38)	V258L	probably benign	Het
Tiam2	T	C	17: 3,414,736 (GRCm38)	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,660,856 (GRCm38)	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,954,651 (GRCm38)	E232G	probably damaging	Het
Trank1	T	A	9: 111,345,479 (GRCm38)	V138E	probably damaging	Het
Ttll3	T	C	6: 113,392,635 (GRCm38)	S47P	probably benign	Het
Utp4	C	T	8: 106,906,225 (GRCm38)	T280M	probably damaging	Het
Vmn1r123	A	T	7: 21,162,869 (GRCm38)	N229Y	probably benign	Het
Vmn1r85	A	T	7: 13,085,015 (GRCm38)	Y67*	probably null	Het
Zbtb12	T	A	17: 34,895,344 (GRCm38)	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,124,061 (GRCm38)	F1212I	probably 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
R7148:AF366264	UTSW	8	13,837,996 (GRCm38)	missense	probably benign	0.01
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
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'- CCTACCTGAGGTATATTAGAAACAGGG -3'
(R):5'- AGAGGGTACATTGGAGCCTG -3'

Sequencing Primer
(F):5'- TGAGGTATATTAGAAACAGGGATGGG -3'
(R):5'- ATTGTATACCTCGATTCCATGGGAC -3'

Posted On

2021-12-30