Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Ammecr1l'

248713

Institutional Source

Beutler Lab

Gene Symbol

Ammecr1l

Ensembl Gene

ENSMUSG00000041915

Gene Name

AMME chromosomal region gene 1-like

Synonyms

E230022H04Rik, 5430429D03Rik

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

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

Stock #

R2401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31892879-31915796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31909056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 217 (I217N)

Ref Sequence

ENSEMBL: ENSMUSP00000111475 (fasta)

Gene Model

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

AlphaFold

Q8JZZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115808
AA Change: I217N

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111475
Gene: ENSMUSG00000041915
AA Change: I217N

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

Meta Mutation Damage Score

0.8854

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,882,312 (GRCm39)	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077 (GRCm39)	N11K	possibly damaging	Het
Ankrd11	G	A	8: 123,635,473 (GRCm39)	R54*	probably null	Het
Ccdc178	C	T	18: 22,264,471 (GRCm39)		probably null	Het
Clcn7	T	C	17: 25,372,114 (GRCm39)	S425P	probably benign	Het
Cnmd	A	G	14: 79,894,045 (GRCm39)	V114A	probably damaging	Het
Col13a1	T	C	10: 61,686,941 (GRCm39)	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp3a25	T	C	5: 145,923,778 (GRCm39)		probably null	Het
Dmrta1	A	T	4: 89,579,853 (GRCm39)	D271V	probably benign	Het
Efcab3	T	A	11: 104,963,144 (GRCm39)		probably null	Het
Exo5	T	C	4: 120,779,194 (GRCm39)	I224V	probably damaging	Het
Fam162b	C	A	10: 51,463,314 (GRCm39)	A118S	probably damaging	Het
Glb1	A	G	9: 114,283,325 (GRCm39)	T406A	possibly damaging	Het
Grk3	T	C	5: 113,062,849 (GRCm39)	N666S	probably benign	Het
Hars2	T	C	18: 36,922,576 (GRCm39)	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,531,223 (GRCm39)		probably benign	Het
Iho1	G	T	9: 108,290,205 (GRCm39)	T133N	possibly damaging	Het
Inpp4b	A	T	8: 82,723,968 (GRCm39)	D500V	probably benign	Het
Itgb4	A	G	11: 115,897,389 (GRCm39)	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,072,214 (GRCm39)	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,598,042 (GRCm39)	V527I	probably benign	Het
Kmt2b	A	G	7: 30,276,133 (GRCm39)	Y1789H	probably damaging	Het
Lpl	A	C	8: 69,353,895 (GRCm39)	D412A	possibly damaging	Het
Lrrc27	T	G	7: 138,803,529 (GRCm39)	L151R	probably damaging	Het
Muc17	T	C	5: 137,190,980 (GRCm39)		probably benign	Het
Nup205	T	A	6: 35,185,069 (GRCm39)	Y829*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,259,192 (GRCm39)	Y447C	probably damaging	Het
Or4f57	T	C	2: 111,790,494 (GRCm39)	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,468,222 (GRCm39)	V381A	probably benign	Het
Prmt2	C	T	10: 76,061,249 (GRCm39)	W79*	probably null	Het
Skic2	T	C	17: 35,059,361 (GRCm39)	M1029V	probably benign	Het
Stil	A	G	4: 114,873,483 (GRCm39)	R369G	probably null	Het
Ttc41	T	C	10: 86,560,238 (GRCm39)	I387T	probably benign	Het
Tubgcp6	A	G	15: 88,987,187 (GRCm39)	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,819,445 (GRCm39)	H1206R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTCATATTCTCAGAGGTACAAC -3'
(R):5'- CCATACTTGGTGGCAGTTGAG -3'

Sequencing Primer
(F):5'- ACATATATATTTGACTGTCCCTTTGG -3'
(R):5'- AGTTGAGCTGAGTCCTTCTCTC -3'

Posted On

2014-11-11