Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01111:Ammecr1l'

53182

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: 0.117) question?

Stock #

IGL01111

Quality Score

Status

Chromosome

Chromosomal Location

31892879-31915796 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31905123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 121 (Y121*)

Ref Sequence

ENSEMBL: ENSMUSP00000111475 (fasta)

Gene Model

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

AlphaFold

Q8JZZ6

Predicted Effect

probably null
Transcript: ENSMUST00000115808
AA Change: Y121*

SMART Domains

Protein: ENSMUSP00000111475
Gene: ENSMUSG00000041915
AA Change: Y121*

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	C	T	18: 34,448,189 (GRCm39)	T1661I	possibly damaging	Het
Ccdc13	T	C	9: 121,639,150 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpt1c	T	C	7: 44,614,978 (GRCm39)	H325R	possibly damaging	Het
Cyp2a22	T	C	7: 26,635,883 (GRCm39)	K227E	probably damaging	Het
Ddx10	T	C	9: 53,071,248 (GRCm39)	K682E	possibly damaging	Het
Dlg2	T	C	7: 91,098,971 (GRCm39)	Y123H	possibly damaging	Het
Dnaaf9	G	T	2: 130,578,518 (GRCm39)	D655E	possibly damaging	Het
Dnah11	A	T	12: 118,106,669 (GRCm39)		probably benign	Het
Dpysl2	T	C	14: 67,071,681 (GRCm39)	E153G	probably damaging	Het
Edrf1	T	A	7: 133,260,282 (GRCm39)	Y64*	probably null	Het
Ephb2	A	T	4: 136,384,721 (GRCm39)	S897T	probably benign	Het
Flt1	A	G	5: 147,515,146 (GRCm39)	I1092T	probably damaging	Het
Gabra4	T	C	5: 71,790,972 (GRCm39)	Y290C	probably damaging	Het
Hectd2	A	T	19: 36,574,520 (GRCm39)	H67L	probably damaging	Het
Itgb2	T	C	10: 77,377,834 (GRCm39)	L11P	probably damaging	Het
Jmy	T	C	13: 93,577,529 (GRCm39)	R880G	probably damaging	Het
Klhl2	A	G	8: 65,202,081 (GRCm39)	C532R	probably damaging	Het
Kpna1	A	G	16: 35,833,259 (GRCm39)		probably benign	Het
L3mbtl2	T	C	15: 81,569,099 (GRCm39)	V591A	possibly damaging	Het
Ldc1	T	A	4: 130,115,518 (GRCm39)	D10V	probably benign	Het
Lepr	A	T	4: 101,671,852 (GRCm39)	N959Y	possibly damaging	Het
Man1a	A	T	10: 53,853,109 (GRCm39)		probably benign	Het
Mov10	A	T	3: 104,708,721 (GRCm39)	S431T	possibly damaging	Het
Mx2	A	T	16: 97,359,919 (GRCm39)	Q563L	probably benign	Het
Nrap	A	T	19: 56,333,990 (GRCm39)	Y874N	probably damaging	Het
Nup160	T	C	2: 90,563,553 (GRCm39)	I1373T	probably benign	Het
Nwd2	A	T	5: 63,964,643 (GRCm39)	D1409V	probably damaging	Het
Obsl1	A	T	1: 75,473,789 (GRCm39)	V744E	possibly damaging	Het
Or51l4	T	A	7: 103,404,580 (GRCm39)	T71S	probably benign	Het
Pgap1	T	C	1: 54,570,102 (GRCm39)	K315R	probably benign	Het
Rab8a	T	C	8: 72,929,700 (GRCm39)	V114A	probably damaging	Het
Sh2d6	T	C	6: 72,496,812 (GRCm39)	T73A	probably benign	Het
Shroom1	A	G	11: 53,354,875 (GRCm39)	E265G	probably damaging	Het
Slc8b1	G	A	5: 120,671,000 (GRCm39)	V529M	probably damaging	Het
Srbd1	G	T	17: 86,405,961 (GRCm39)	A613E	probably benign	Het
Stat1	G	A	1: 52,182,120 (GRCm39)		probably null	Het
Tbck	A	G	3: 132,400,168 (GRCm39)	H73R	probably damaging	Het
Thg1l	A	T	11: 45,839,051 (GRCm39)	D220E	probably damaging	Het
Ttn	C	T	2: 76,608,667 (GRCm39)	G16037D	probably damaging	Het
Unc13b	A	G	4: 43,096,927 (GRCm39)	E100G	possibly damaging	Het
Vmn2r81	T	A	10: 79,083,831 (GRCm39)	D68E	probably benign	Het
Xpo6	T	C	7: 125,728,740 (GRCm39)	T505A	probably benign	Het
Zfp976	T	C	7: 42,265,711 (GRCm39)	K25E	probably damaging	Het

Other mutations in Ammecr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21