Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03277:Nipsnap3a'

415444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipsnap3a

Ensembl Gene

ENSMUSG00000015242

Gene Name

nipsnap homolog 3A

Synonyms

1700054F22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03277

Quality Score

Status

Chromosome

Chromosomal Location

52989284-53000854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52997219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 162 (A162S)

Ref Sequence

ENSEMBL: ENSMUSP00000140727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015386] [ENSMUST00000107666] [ENSMUST00000188045]

AlphaFold

B1AWZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000015386
AA Change: A162S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015386
Gene: ENSMUSG00000015242
AA Change: A162S

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	35	134	8e-28	PFAM
Pfam:NIPSNAP	144	243	2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107666
AA Change: A164S

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103293
Gene: ENSMUSG00000015242
AA Change: A164S

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	37	136	1.9e-30	PFAM
Pfam:NIPSNAP	146	245	6.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123780

Predicted Effect

probably benign
Transcript: ENSMUST00000188045
AA Change: A162S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140727
Gene: ENSMUSG00000015242
AA Change: A162S

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	35	134	8e-28	PFAM
Pfam:NIPSNAP	144	243	2e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amt	A	G	9: 108,178,418 (GRCm39)	T342A	probably benign	Het
Atosa	G	A	9: 74,916,514 (GRCm39)	R371Q	probably damaging	Het
B3glct	T	C	5: 149,650,299 (GRCm39)	L134P	probably damaging	Het
Bms1	A	T	6: 118,382,083 (GRCm39)	M485K	probably benign	Het
Chd6	T	C	2: 160,824,981 (GRCm39)	N1226S	probably null	Het
Cpne2	T	C	8: 95,275,000 (GRCm39)	Y3H	probably benign	Het
Dmxl2	A	G	9: 54,311,504 (GRCm39)	V1739A	probably damaging	Het
Dnah7a	T	A	1: 53,669,481 (GRCm39)	T543S	probably benign	Het
Dock11	T	G	X: 35,277,603 (GRCm39)	V1000G	probably benign	Het
Ednrb	T	A	14: 104,080,735 (GRCm39)	N60Y	probably benign	Het
Eif3d	A	G	15: 77,843,849 (GRCm39)	M499T	possibly damaging	Het
Elmod1	G	A	9: 53,833,272 (GRCm39)	L178F	probably damaging	Het
Hrh4	T	C	18: 13,148,940 (GRCm39)	S101P	probably damaging	Het
Ift172	A	G	5: 31,424,642 (GRCm39)	V684A	possibly damaging	Het
Mtx2	A	G	2: 74,698,748 (GRCm39)	T124A	probably damaging	Het
Nat3	T	A	8: 68,000,341 (GRCm39)	H73Q	probably benign	Het
Ndst2	A	G	14: 20,780,234 (GRCm39)	L2P	possibly damaging	Het
Or2a57	T	G	6: 43,212,876 (GRCm39)	C111W	probably damaging	Het
Or5m5	T	C	2: 85,814,517 (GRCm39)	I111T	probably damaging	Het
Peg3	T	C	7: 6,714,673 (GRCm39)	D183G	probably damaging	Het
Prlr	A	G	15: 10,328,887 (GRCm39)	E454G	probably benign	Het
Prom1	G	A	5: 44,190,313 (GRCm39)	Q364*	probably null	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sema5b	A	G	16: 35,471,682 (GRCm39)	D425G	probably damaging	Het
Slc16a7	A	T	10: 125,066,560 (GRCm39)	C360S	probably benign	Het
Slc38a7	T	A	8: 96,575,104 (GRCm39)	I59F	probably damaging	Het
Slc5a6	A	G	5: 31,195,372 (GRCm39)	C449R	possibly damaging	Het
Slc9b1	T	C	3: 135,096,269 (GRCm39)	Y357H	possibly damaging	Het
Snx17	A	T	5: 31,353,084 (GRCm39)		probably benign	Het
Stk32b	A	C	5: 37,786,320 (GRCm39)	M48R	probably damaging	Het
Tspan9	A	G	6: 127,944,038 (GRCm39)		probably null	Het
Tst	A	T	15: 78,289,521 (GRCm39)	N171K	probably damaging	Het
Vmn1r180	T	A	7: 23,652,710 (GRCm39)	I291N	probably damaging	Het
Vmn2r32	T	A	7: 7,477,251 (GRCm39)	D380V	probably benign	Het
Wdfy4	T	C	14: 32,790,861 (GRCm39)	T2189A	probably benign	Het
Zbtb20	A	G	16: 43,438,800 (GRCm39)	N640S	possibly damaging	Het
Zfp142	A	G	1: 74,610,193 (GRCm39)	S1098P	probably damaging	Het

Other mutations in Nipsnap3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03351:Nipsnap3a	APN	4	52,994,134 (GRCm39)	missense	probably benign	0.19
R0284:Nipsnap3a	UTSW	4	52,997,178 (GRCm39)	missense	probably benign	0.19
R0347:Nipsnap3a	UTSW	4	52,997,155 (GRCm39)	splice site	probably benign
R0433:Nipsnap3a	UTSW	4	53,000,316 (GRCm39)	missense	probably damaging	1.00
R1691:Nipsnap3a	UTSW	4	52,994,185 (GRCm39)	missense	probably null	0.35
R4222:Nipsnap3a	UTSW	4	52,997,251 (GRCm39)	missense	probably benign	0.00
R4223:Nipsnap3a	UTSW	4	52,997,251 (GRCm39)	missense	probably benign	0.00
R4356:Nipsnap3a	UTSW	4	52,995,979 (GRCm39)	critical splice donor site	probably null
R7039:Nipsnap3a	UTSW	4	53,000,130 (GRCm39)	missense	probably damaging	1.00
R7138:Nipsnap3a	UTSW	4	52,993,978 (GRCm39)	missense	probably benign	0.01
R7436:Nipsnap3a	UTSW	4	52,994,159 (GRCm39)	missense	probably damaging	1.00
R7453:Nipsnap3a	UTSW	4	52,995,882 (GRCm39)	missense	probably benign	0.00
R7817:Nipsnap3a	UTSW	4	52,997,279 (GRCm39)	missense	probably damaging	1.00
R9502:Nipsnap3a	UTSW	4	52,994,039 (GRCm39)	missense	probably benign	0.44
Z1176:Nipsnap3a	UTSW	4	52,997,216 (GRCm39)	nonsense	probably null

Posted On

2016-08-02