Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03135:Naaladl1'

410479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naaladl1

Ensembl Gene

ENSMUSG00000054999

Gene Name

N-acetylated alpha-linked acidic dipeptidase-like 1

Synonyms

LOC381204

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL03135

Quality Score

Status

Chromosome

Chromosomal Location

6155812-6165822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6162386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 443 (T443S)

Ref Sequence

ENSEMBL: ENSMUSP00000044231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044451] [ENSMUST00000113533]

AlphaFold

Q7M758

Predicted Effect

probably benign
Transcript: ENSMUST00000044451
AA Change: T443S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
AA Change: T443S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC
Pfam:PA	163	256	3e-12	PFAM
Pfam:Peptidase_M28	353	564	1.3e-22	PFAM
low complexity region	579	592	N/A	INTRINSIC
Pfam:TFR_dimer	621	740	4.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113533

SMART Domains

Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
Pfam:SAC3_GANP	134	356	7.6e-50	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apmap	A	C	2: 150,429,035 (GRCm39)	M196R	possibly damaging	Het
Arhgap27	T	A	11: 103,229,891 (GRCm39)		probably null	Het
Arl8b	A	C	6: 108,795,506 (GRCm39)	N148T	probably benign	Het
Baz1a	A	G	12: 54,976,375 (GRCm39)	F434L	probably damaging	Het
Birc2	A	G	9: 7,849,722 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,822,458 (GRCm39)	R1249I	probably damaging	Het
Cab39l	T	C	14: 59,757,100 (GRCm39)	F161L	probably benign	Het
Ccr8	A	T	9: 119,923,689 (GRCm39)	D268V	possibly damaging	Het
Col25a1	A	T	3: 130,323,332 (GRCm39)		probably benign	Het
Cpn1	A	G	19: 43,974,693 (GRCm39)	L12P	possibly damaging	Het
Dnah6	A	G	6: 73,121,987 (GRCm39)	I1360T	probably benign	Het
Dnajb8	A	G	6: 88,200,013 (GRCm39)	E183G	probably damaging	Het
Dpp8	T	A	9: 64,960,322 (GRCm39)		probably null	Het
Fsd1	C	A	17: 56,297,416 (GRCm39)		probably null	Het
Grina	T	A	15: 76,132,162 (GRCm39)	F28I	possibly damaging	Het
H2-M3	G	A	17: 37,583,324 (GRCm39)	D262N	possibly damaging	Het
Hdgfl3	G	A	7: 81,543,587 (GRCm39)	T188M	probably damaging	Het
Kif18b	A	G	11: 102,805,086 (GRCm39)	I353T	probably damaging	Het
Lrrc41	C	A	4: 115,945,728 (GRCm39)	R148S	probably benign	Het
Lrrc8e	T	A	8: 4,285,776 (GRCm39)	L667Q	probably damaging	Het
Lrrk1	A	G	7: 65,912,638 (GRCm39)	F1641L	probably benign	Het
Naga	C	A	15: 82,214,942 (GRCm39)	V339F	probably damaging	Het
Nedd4l	A	G	18: 65,338,741 (GRCm39)	K702E	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Parp14	A	G	16: 35,678,381 (GRCm39)	M529T	probably damaging	Het
Parp8	A	G	13: 117,047,478 (GRCm39)	V198A	probably benign	Het
Pcdhb19	A	T	18: 37,631,588 (GRCm39)	H461L	probably benign	Het
Ppp6r1	T	C	7: 4,645,159 (GRCm39)	D236G	possibly damaging	Het
Psg21	T	C	7: 18,388,843 (GRCm39)	D83G	probably benign	Het
Ptpru	A	G	4: 131,546,111 (GRCm39)	C308R	probably damaging	Het
Ralgds	T	A	2: 28,439,100 (GRCm39)	S696T	probably damaging	Het
Rttn	T	A	18: 89,033,274 (GRCm39)	L695Q	probably damaging	Het
Scel	A	T	14: 103,823,950 (GRCm39)	I393F	probably benign	Het
Serpina3j	T	A	12: 104,281,166 (GRCm39)	I113N	probably damaging	Het
Slc4a3	C	A	1: 75,524,579 (GRCm39)		probably benign	Het
Slc6a11	A	T	6: 114,171,570 (GRCm39)		probably null	Het
Slc8a3	C	T	12: 81,249,023 (GRCm39)	V802M	probably damaging	Het
Smarcal1	T	A	1: 72,655,660 (GRCm39)		probably null	Het
Tmprss11c	A	G	5: 86,385,509 (GRCm39)	V308A	probably damaging	Het
Trim10	A	G	17: 37,185,113 (GRCm39)	R279G	possibly damaging	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Trio	T	C	15: 27,832,097 (GRCm39)		probably benign	Het
Urgcp	G	A	11: 5,666,091 (GRCm39)	T749I	possibly damaging	Het
Vmn2r60	A	G	7: 41,786,018 (GRCm39)	I274V	probably benign	Het
Vps11	A	G	9: 44,267,653 (GRCm39)	F40L	probably benign	Het
Ywhab	A	G	2: 163,857,195 (GRCm39)	I157V	probably benign	Het
Zfp638	G	A	6: 83,919,857 (GRCm39)	R485H	probably damaging	Het
Zfp944	A	G	17: 22,558,737 (GRCm39)	I170T	probably benign	Het

Other mutations in Naaladl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Naaladl1	APN	19	6,159,661 (GRCm39)	splice site	probably null
IGL01905:Naaladl1	APN	19	6,165,577 (GRCm39)	missense	possibly damaging	0.79
IGL02491:Naaladl1	APN	19	6,159,748 (GRCm39)	missense	possibly damaging	0.82
IGL03143:Naaladl1	APN	19	6,164,896 (GRCm39)	missense	possibly damaging	0.79
IGL03340:Naaladl1	APN	19	6,156,229 (GRCm39)	missense	possibly damaging	0.63
PIT4466001:Naaladl1	UTSW	19	6,164,663 (GRCm39)	missense	possibly damaging	0.89
R0102:Naaladl1	UTSW	19	6,162,534 (GRCm39)	missense	probably damaging	1.00
R0102:Naaladl1	UTSW	19	6,162,534 (GRCm39)	missense	probably damaging	1.00
R0734:Naaladl1	UTSW	19	6,162,904 (GRCm39)	critical splice acceptor site	probably null
R2291:Naaladl1	UTSW	19	6,156,225 (GRCm39)	missense	probably benign
R3805:Naaladl1	UTSW	19	6,164,895 (GRCm39)	missense	probably benign	0.00
R4414:Naaladl1	UTSW	19	6,165,581 (GRCm39)	missense	probably damaging	1.00
R4694:Naaladl1	UTSW	19	6,158,920 (GRCm39)	missense	probably damaging	1.00
R5819:Naaladl1	UTSW	19	6,159,684 (GRCm39)	missense	possibly damaging	0.83
R6103:Naaladl1	UTSW	19	6,158,743 (GRCm39)	missense	probably damaging	0.99
R6141:Naaladl1	UTSW	19	6,159,785 (GRCm39)	critical splice donor site	probably null
R6896:Naaladl1	UTSW	19	6,159,335 (GRCm39)	splice site	probably null
R6950:Naaladl1	UTSW	19	6,156,011 (GRCm39)	missense	probably damaging	1.00
R6995:Naaladl1	UTSW	19	6,165,578 (GRCm39)	missense	possibly damaging	0.79
R7130:Naaladl1	UTSW	19	6,156,018 (GRCm39)	missense	probably benign	0.03
R7810:Naaladl1	UTSW	19	6,159,694 (GRCm39)	missense	probably damaging	1.00
R7972:Naaladl1	UTSW	19	6,156,274 (GRCm39)	missense	probably damaging	1.00
R8343:Naaladl1	UTSW	19	6,159,703 (GRCm39)	missense	possibly damaging	0.76
R8468:Naaladl1	UTSW	19	6,158,615 (GRCm39)	missense	probably damaging	1.00
R9004:Naaladl1	UTSW	19	6,155,965 (GRCm39)	missense	probably damaging	1.00
R9052:Naaladl1	UTSW	19	6,158,716 (GRCm39)	missense	probably benign	0.19
R9314:Naaladl1	UTSW	19	6,162,401 (GRCm39)	missense	probably damaging	1.00
R9390:Naaladl1	UTSW	19	6,162,725 (GRCm39)	missense	probably damaging	0.97
R9432:Naaladl1	UTSW	19	6,156,917 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02