Mutagenetix > Incidental Mutation

Incidental Mutation 'R6408:Amer2'

514553

Institutional Source

Beutler Lab

Gene Symbol

Amer2

Ensembl Gene

ENSMUSG00000021986

Gene Name

APC membrane recruitment 2

Synonyms

Fam123a, Amer2, 2600011E07Rik

MMRRC Submission

044553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60615141-60625642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60617674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 497 (I497T)

Ref Sequence

ENSEMBL: ENSMUSP00000153031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022561] [ENSMUST00000224957] [ENSMUST00000225247]

AlphaFold

Q8CCJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022561
AA Change: I623T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986
AA Change: I623T

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:WTX	57	554	5.2e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224957

Predicted Effect

probably damaging
Transcript: ENSMUST00000225247
AA Change: I497T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.2%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,691,858 (GRCm39)	S50P	probably damaging	Het
4930407I10Rik	T	C	15: 81,949,307 (GRCm39)	V1068A	possibly damaging	Het
Acss1	A	G	2: 150,470,412 (GRCm39)		probably null	Het
Azi2	A	T	9: 117,890,550 (GRCm39)	R51*	probably null	Het
Brdt	A	G	5: 107,533,358 (GRCm39)	D946G	probably damaging	Het
Bzw2	C	T	12: 36,157,524 (GRCm39)	V314I	possibly damaging	Het
Capn13	A	T	17: 73,672,954 (GRCm39)	Y116*	probably null	Het
Clca4b	A	G	3: 144,625,036 (GRCm39)	I485T	probably benign	Het
Crybg3	T	A	16: 59,316,053 (GRCm39)	T1130S	possibly damaging	Het
Cubn	C	T	2: 13,299,014 (GRCm39)	V3220M	probably damaging	Het
Cyp4f16	T	A	17: 32,770,173 (GRCm39)	L514Q	probably damaging	Het
D7Ertd443e	G	T	7: 133,951,440 (GRCm39)	Q31K	probably benign	Het
Dcaf15	T	C	8: 84,831,355 (GRCm39)	E8G	probably benign	Het
Ddx24	A	C	12: 103,391,819 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,066,430 (GRCm39)	M988V	possibly damaging	Het
Dlx4	A	G	11: 95,036,078 (GRCm39)	V77A	probably benign	Het
Dnah3	T	C	7: 119,522,191 (GRCm39)		probably null	Het
Drc1	A	G	5: 30,513,632 (GRCm39)	E396G	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gbp2b	T	C	3: 142,323,899 (GRCm39)	L568S	probably benign	Het
Gjb5	A	T	4: 127,249,940 (GRCm39)	F68Y	probably benign	Het
Hs6st3	C	A	14: 119,376,046 (GRCm39)	P74T	probably benign	Het
Kif26b	T	C	1: 178,745,133 (GRCm39)	L1743P	probably damaging	Het
Lnx1	A	T	5: 74,846,307 (GRCm39)	C48S	probably damaging	Het
Lrfn2	A	G	17: 49,377,654 (GRCm39)	H245R	probably damaging	Het
Lrrc27	A	G	7: 138,798,184 (GRCm39)	E93G	probably benign	Het
Mettl6	T	C	14: 31,201,683 (GRCm39)	E253G	probably damaging	Het
Nmu	A	T	5: 76,491,818 (GRCm39)	F106Y	probably damaging	Het
Pcsk7	T	C	9: 45,820,994 (GRCm39)	I142T	probably benign	Het
Polr3a	A	T	14: 24,536,939 (GRCm39)		probably null	Het
Psmb9	G	T	17: 34,404,707 (GRCm39)	A19E	probably damaging	Het
Pus7l	A	G	15: 94,429,456 (GRCm39)	M454T	probably benign	Het
Raet1e	A	G	10: 22,056,645 (GRCm39)	T74A	probably benign	Het
Ralb	A	C	1: 119,405,839 (GRCm39)	Y43*	probably null	Het
Ralgapa1	C	A	12: 55,730,695 (GRCm39)	E1947*	probably null	Het
Rnf26rt	A	G	6: 76,473,441 (GRCm39)	C392R	probably damaging	Het
Robo1	T	C	16: 72,768,934 (GRCm39)	Y500H	probably benign	Het
Shroom1	A	C	11: 53,354,214 (GRCm39)	T45P	probably benign	Het
Slit2	A	G	5: 48,142,328 (GRCm39)		probably benign	Het
Spmip2	A	G	3: 79,356,706 (GRCm39)	R170G	probably benign	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Taok2	A	G	7: 126,470,164 (GRCm39)	V888A	probably benign	Het
Tbc1d8	T	A	1: 39,441,980 (GRCm39)	D204V	probably damaging	Het
Thoc2l	A	G	5: 104,666,643 (GRCm39)	I388M	probably benign	Het
Trav7d-4	C	A	14: 53,007,624 (GRCm39)	A39D	probably damaging	Het
Ush2a	G	T	1: 187,999,229 (GRCm39)	E180*	probably null	Het
Vmn1r37	A	G	6: 66,708,563 (GRCm39)	D63G	probably benign	Het
Zfp282	G	A	6: 47,857,319 (GRCm39)	R184Q	probably damaging	Het

Other mutations in Amer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Amer2	APN	14	60,617,356 (GRCm39)	missense	possibly damaging	0.82
IGL03306:Amer2	APN	14	60,616,001 (GRCm39)	missense	probably damaging	1.00
IGL03382:Amer2	APN	14	60,617,331 (GRCm39)	missense	possibly damaging	0.77
R0365:Amer2	UTSW	14	60,616,984 (GRCm39)	missense	probably damaging	0.99
R0433:Amer2	UTSW	14	60,616,032 (GRCm39)	missense	probably damaging	0.99
R1696:Amer2	UTSW	14	60,617,123 (GRCm39)	missense	possibly damaging	0.65
R1754:Amer2	UTSW	14	60,617,206 (GRCm39)	missense	probably damaging	1.00
R1991:Amer2	UTSW	14	60,617,269 (GRCm39)	missense	probably damaging	0.96
R2018:Amer2	UTSW	14	60,615,894 (GRCm39)	missense	probably damaging	1.00
R2423:Amer2	UTSW	14	60,616,656 (GRCm39)	missense	possibly damaging	0.81
R3160:Amer2	UTSW	14	60,616,000 (GRCm39)	missense	probably damaging	1.00
R3161:Amer2	UTSW	14	60,616,000 (GRCm39)	missense	probably damaging	1.00
R3162:Amer2	UTSW	14	60,616,000 (GRCm39)	missense	probably damaging	1.00
R4928:Amer2	UTSW	14	60,616,894 (GRCm39)	missense	possibly damaging	0.92
R4981:Amer2	UTSW	14	60,617,176 (GRCm39)	missense	probably damaging	1.00
R5212:Amer2	UTSW	14	60,617,269 (GRCm39)	missense	probably damaging	0.96
R5535:Amer2	UTSW	14	60,616,302 (GRCm39)	small deletion	probably benign
R5685:Amer2	UTSW	14	60,617,026 (GRCm39)	nonsense	probably null
R6002:Amer2	UTSW	14	60,616,231 (GRCm39)	missense	possibly damaging	0.93
R6247:Amer2	UTSW	14	60,616,321 (GRCm39)	missense	probably damaging	0.96
R7271:Amer2	UTSW	14	60,617,123 (GRCm39)	missense	possibly damaging	0.65
R7407:Amer2	UTSW	14	60,616,291 (GRCm39)	missense	probably damaging	1.00
R8116:Amer2	UTSW	14	60,616,854 (GRCm39)	missense	probably damaging	1.00
R8122:Amer2	UTSW	14	60,616,791 (GRCm39)	missense	possibly damaging	0.94
R8758:Amer2	UTSW	14	60,616,326 (GRCm39)	missense	probably damaging	0.99
R9005:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9006:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9007:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9016:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGCTGAAGGACTCTAAAATCCC -3'
(R):5'- ACTCCAGGTGTAACATCCCC -3'

Sequencing Primer
(F):5'- TGAAGGACTCTAAAATCCCTATTAGC -3'
(R):5'- TGTCTCCAACAAAGACTTCTAGG -3'

Posted On

2018-05-04