Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01684:Ammecr1l'

103890

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 #

IGL01684

Quality Score

Status

Chromosome

Chromosomal Location

31892879-31915796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31904821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 21 (V21F)

Ref Sequence

ENSEMBL: ENSMUSP00000111475 (fasta)

Gene Model

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

AlphaFold

Q8JZZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000115808
AA Change: V21F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111475
Gene: ENSMUSG00000041915
AA Change: V21F

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,116,740 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,008,885 (GRCm39)	L283P	probably damaging	Het
Cacna1h	C	T	17: 25,607,690 (GRCm39)	G876S	probably damaging	Het
Ccdc66	T	C	14: 27,222,206 (GRCm39)	E179G	possibly damaging	Het
Ckap5	T	G	2: 91,385,699 (GRCm39)	D182E	probably benign	Het
Clk1	A	G	1: 58,456,424 (GRCm39)		probably null	Het
Dhx34	G	A	7: 15,937,204 (GRCm39)	T831M	probably damaging	Het
Enox1	T	C	14: 77,816,533 (GRCm39)	I171T	possibly damaging	Het
Fscn2	G	A	11: 120,258,131 (GRCm39)	R351H	probably damaging	Het
Gabbr2	G	A	4: 46,736,501 (GRCm39)	S460L	probably benign	Het
Gramd1a	A	G	7: 30,838,330 (GRCm39)	S308P	possibly damaging	Het
Guca1a	T	C	17: 47,706,068 (GRCm39)	D137G	probably null	Het
Heatr5a	G	A	12: 52,002,294 (GRCm39)	T214I	probably benign	Het
Klf7	T	C	1: 64,160,051 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,359,723 (GRCm39)	S1854P	probably damaging	Het
Mau2	A	T	8: 70,481,895 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,726,857 (GRCm39)	I2639V	probably benign	Het
Mylk	A	G	16: 34,792,310 (GRCm39)	M1544V	possibly damaging	Het
Ogdh	G	T	11: 6,292,546 (GRCm39)	V420L	probably damaging	Het
Or13a21	T	C	7: 139,998,828 (GRCm39)	N286S	probably damaging	Het
Or5b105	A	G	19: 13,080,353 (GRCm39)	F105S	possibly damaging	Het
Pcm1	A	G	8: 41,710,960 (GRCm39)	T77A	probably benign	Het
Piezo2	T	A	18: 63,216,241 (GRCm39)	I947F	probably damaging	Het
Prrc2c	A	T	1: 162,534,031 (GRCm39)		probably benign	Het
Ptch2	A	G	4: 116,961,984 (GRCm39)	E107G	probably damaging	Het
Rmdn3	T	C	2: 118,978,055 (GRCm39)	E182G	probably damaging	Het
Rpl23a-ps3	C	T	14: 33,892,745 (GRCm39)		noncoding transcript	Het
Sorl1	T	C	9: 41,892,007 (GRCm39)	D1881G	probably damaging	Het
Tbc1d19	A	G	5: 54,014,221 (GRCm39)	N283S	probably benign	Het
Tcf20	A	G	15: 82,741,361 (GRCm39)	F30S	probably damaging	Het
Tiparp	A	T	3: 65,460,754 (GRCm39)	K581I	probably damaging	Het
Tle3	T	C	9: 61,310,728 (GRCm39)		probably benign	Het
Ubr3	C	A	2: 69,846,502 (GRCm39)	Y1608*	probably null	Het
Vmn1r59	T	C	7: 5,457,299 (GRCm39)	T154A	probably benign	Het
Vta1	A	G	10: 14,559,875 (GRCm39)	I115T	probably damaging	Het
Wwtr1	C	A	3: 57,483,210 (GRCm39)	R31L	probably damaging	Het
Zfp385b	T	C	2: 77,550,019 (GRCm39)	D22G	possibly damaging	Het
Zfp516	A	G	18: 82,975,326 (GRCm39)	E508G	probably damaging	Het
Zfp735	T	A	11: 73,581,191 (GRCm39)	V76E	possibly damaging	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
IGL01910:Ammecr1l	APN	18	31,904,995 (GRCm39)	missense	probably benign	0.00
IGL03176:Ammecr1l	APN	18	31,905,102 (GRCm39)	missense	possibly damaging	0.48
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

2014-01-21