Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03176:Ammecr1l'

411993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ammecr1l

Ensembl Gene

ENSMUSG00000041915

Gene Name

AMME chromosomal region gene 1-like

Synonyms

E230022H04Rik, 5430429D03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL03176

Quality Score

Status

Chromosome

Chromosomal Location

31892879-31915796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31905102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 114 (D114E)

Ref Sequence

ENSEMBL: ENSMUSP00000111475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115808]

AlphaFold

Q8JZZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115808
AA Change: D114E

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111475
Gene: ENSMUSG00000041915
AA Change: D114E

Domain	Start	End	E-Value	Type
Pfam:AMMECR1	109	280	8.5e-53	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	C	A	1: 63,602,575 (GRCm39)	P579Q	probably damaging	Het
Adam6a	A	G	12: 113,509,822 (GRCm39)	T732A	probably benign	Het
Ahnak	T	A	19: 8,985,530 (GRCm39)	N2271K	possibly damaging	Het
Ahnak	T	C	19: 8,979,813 (GRCm39)	S366P	probably damaging	Het
Akr1a1	A	G	4: 116,496,272 (GRCm39)	L213S	probably damaging	Het
Casq2	G	T	3: 102,033,970 (GRCm39)	V167L	possibly damaging	Het
Cd164l2	T	C	4: 132,951,565 (GRCm39)	I172T	possibly damaging	Het
Clec4g	C	T	8: 3,768,441 (GRCm39)	V97M	possibly damaging	Het
Dnah8	T	A	17: 30,913,011 (GRCm39)	N1068K	probably benign	Het
Epyc	A	G	10: 97,485,562 (GRCm39)	M1V	probably null	Het
Eya3	A	G	4: 132,439,233 (GRCm39)	E437G	possibly damaging	Het
Fbln1	C	T	15: 85,128,507 (GRCm39)	T568I	possibly damaging	Het
Fcrl1	A	T	3: 87,298,564 (GRCm39)	N353I	probably damaging	Het
Gm10272	A	T	10: 77,542,467 (GRCm39)	H3L	probably null	Het
Gm15130	A	G	2: 110,978,846 (GRCm39)	S32P	unknown	Het
Gm20379	C	A	13: 92,442,529 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,935,559 (GRCm39)	Y644N	probably damaging	Het
Krtap4-9	T	C	11: 99,676,106 (GRCm39)		probably benign	Het
Man2c1	A	G	9: 57,048,030 (GRCm39)	N739D	probably benign	Het
Mcm5	C	T	8: 75,836,481 (GRCm39)	T49M	possibly damaging	Het
Otof	C	T	5: 30,562,520 (GRCm39)		probably null	Het
Ptgr2	C	T	12: 84,354,668 (GRCm39)	T283I	probably damaging	Het
Rhox4c	G	T	X: 36,662,181 (GRCm39)	G15V	probably benign	Het
Rnd1	A	T	15: 98,568,569 (GRCm39)	L203H	probably damaging	Het
Rnf186	A	G	4: 138,695,231 (GRCm39)	N257S	probably benign	Het
Rsf1	T	C	7: 97,328,357 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,756,909 (GRCm39)	Q1582*	probably null	Het
Sntg2	G	A	12: 30,317,022 (GRCm39)		probably benign	Het
Spata31d1c	A	G	13: 65,184,825 (GRCm39)	D789G	probably benign	Het
Strc	A	C	2: 121,202,661 (GRCm39)	L1168R	probably damaging	Het
Tmtc3	A	T	10: 100,301,993 (GRCm39)	S319T	possibly damaging	Het
Vmn1r88	A	T	7: 12,911,779 (GRCm39)	D45V	probably damaging	Het
Vps13d	A	T	4: 144,801,533 (GRCm39)	F3531I	probably benign	Het

Other mutations in Ammecr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ammecr1l	APN	18	31,905,123 (GRCm39)	nonsense	probably null
IGL01684:Ammecr1l	APN	18	31,904,821 (GRCm39)	missense	probably damaging	1.00
IGL01910:Ammecr1l	APN	18	31,904,995 (GRCm39)	missense	probably benign	0.00
R0518:Ammecr1l	UTSW	18	31,904,954 (GRCm39)	missense	probably benign	0.30
R1595:Ammecr1l	UTSW	18	31,905,173 (GRCm39)	splice site	probably null
R1689:Ammecr1l	UTSW	18	31,913,741 (GRCm39)	missense	probably benign	0.14
R2401:Ammecr1l	UTSW	18	31,909,056 (GRCm39)	missense	possibly damaging	0.68
R4715:Ammecr1l	UTSW	18	31,907,706 (GRCm39)	nonsense	probably null
R5893:Ammecr1l	UTSW	18	31,911,973 (GRCm39)	missense	probably damaging	0.99
R7088:Ammecr1l	UTSW	18	31,904,872 (GRCm39)	missense	probably benign
R7089:Ammecr1l	UTSW	18	31,894,877 (GRCm39)	start gained	probably benign
R8523:Ammecr1l	UTSW	18	31,905,152 (GRCm39)	missense	probably damaging	1.00
R9414:Ammecr1l	UTSW	18	31,904,962 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02