Mutagenetix > Incidental Mutation

Incidental Mutation 'R6213:Nipsnap3b'

503547

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap3b

Ensembl Gene

ENSMUSG00000015247

Gene Name

nipsnap homolog 3B

Synonyms

2700063N13Rik

MMRRC Submission

044346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53011932-53022060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53017066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 97 (T97A)

Ref Sequence

ENSEMBL: ENSMUSP00000103292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015391] [ENSMUST00000107665]

AlphaFold

Q9CQE1

Predicted Effect

probably benign
Transcript: ENSMUST00000015391
AA Change: T97A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015391
Gene: ENSMUSG00000015247
AA Change: T97A

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	37	136	1.5e-32	PFAM
Pfam:NIPSNAP	146	245	5.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107665
AA Change: T97A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103292
Gene: ENSMUSG00000015247
AA Change: T97A

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	37	136	2.2e-30	PFAM
Pfam:NIPSNAP	134	195	8.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132678

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,762 (GRCm39)	Y207H	probably damaging	Het
Adcy7	G	A	8: 89,040,765 (GRCm39)	V335M	probably damaging	Het
Apol11b	A	C	15: 77,522,200 (GRCm39)	D32E	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdkn1b	T	A	6: 134,898,206 (GRCm39)	D108E	probably benign	Het
Cep290	A	G	10: 100,359,222 (GRCm39)	D984G	probably benign	Het
Csde1	T	C	3: 102,947,830 (GRCm39)	V128A	probably damaging	Het
Csmd3	A	G	15: 47,492,656 (GRCm39)	S3162P	probably damaging	Het
D5Ertd579e	G	A	5: 36,759,978 (GRCm39)	T1394I	probably damaging	Het
Ddx6	T	A	9: 44,539,990 (GRCm39)	L306Q	probably damaging	Het
Dmxl1	T	A	18: 49,996,082 (GRCm39)	S403T	possibly damaging	Het
F11	G	T	8: 45,694,537 (GRCm39)	T608K	probably damaging	Het
Flrt3	C	T	2: 140,503,085 (GRCm39)	R181H	probably damaging	Het
Hs3st1	A	T	5: 39,771,864 (GRCm39)	C260S	probably damaging	Het
Ighv7-1	A	T	12: 113,860,141 (GRCm39)	S84T	probably damaging	Het
Inpp4b	A	G	8: 82,724,019 (GRCm39)	D332G	probably damaging	Het
Irf2bpl	T	C	12: 86,930,367 (GRCm39)	Q102R	probably benign	Het
Itpr3	T	A	17: 27,330,174 (GRCm39)	D1597E	probably benign	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lypd8	A	G	11: 58,281,160 (GRCm39)	T241A	probably benign	Het
Map1lc3a	T	C	2: 155,118,935 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,642,198 (GRCm39)	T1052I	probably damaging	Het
Muc2	T	C	7: 141,305,151 (GRCm39)	C152R	probably damaging	Het
Muc5b	A	T	7: 141,415,903 (GRCm39)	M2950L	probably benign	Het
Muc5b	A	G	7: 141,421,356 (GRCm39)	D4282G	possibly damaging	Het
Myo16	G	T	8: 10,420,963 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,734,541 (GRCm39)	F708I	probably damaging	Het
Nadsyn1	A	T	7: 143,353,549 (GRCm39)	F558Y	probably benign	Het
Nat9	A	T	11: 115,075,932 (GRCm39)	W30R	probably damaging	Het
Nipbl	A	G	15: 8,364,390 (GRCm39)	L1338S	probably damaging	Het
Npepps	A	T	11: 97,132,823 (GRCm39)	Y301*	probably null	Het
Nrcam	C	T	12: 44,609,215 (GRCm39)	P447S	possibly damaging	Het
Or14c41	A	G	7: 86,234,485 (GRCm39)	M1V	probably null	Het
Or1o4	T	C	17: 37,591,264 (GRCm39)	S16G	probably benign	Het
Or2a14	A	G	6: 43,130,821 (GRCm39)	N194S	possibly damaging	Het
Or52b4	T	C	7: 102,184,139 (GRCm39)	Y62H	probably damaging	Het
Pacsin3	G	T	2: 91,090,779 (GRCm39)	V29F	probably damaging	Het
Pdzrn3	A	C	6: 101,354,805 (GRCm39)	D15E	probably damaging	Het
Phf20l1	T	C	15: 66,504,752 (GRCm39)		probably null	Het
Pign	A	C	1: 105,516,991 (GRCm39)	V545G	possibly damaging	Het
Pkhd1	T	C	1: 20,593,994 (GRCm39)	N1373S	possibly damaging	Het
Ptchd4	T	A	17: 42,688,251 (GRCm39)	H264Q	probably benign	Het
Ptpn3	G	T	4: 57,265,012 (GRCm39)	Q73K	probably damaging	Het
Ptrh1	G	A	2: 32,666,757 (GRCm39)	V109I	probably benign	Het
Reg1	A	T	6: 78,404,386 (GRCm39)	I87F	possibly damaging	Het
Rrp12	C	A	19: 41,857,217 (GRCm39)	V1186L	probably benign	Het
Sall1	AGTGGTGGTGGTGGTGGTGGTGG	AGTGGTGGTGGTGGTGGTGG	8: 89,759,686 (GRCm39)		probably benign	Het
Slc23a3	A	C	1: 75,108,392 (GRCm39)	F279V	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Suds3	A	G	5: 117,244,727 (GRCm39)	L115P	probably damaging	Het
Tekt2	G	A	4: 126,216,989 (GRCm39)	A260V	probably damaging	Het
Tgfb3	T	A	12: 86,104,621 (GRCm39)	Y391F	probably damaging	Het
Topbp1	T	C	9: 103,209,950 (GRCm39)	S866P	probably benign	Het
Tspan14	A	G	14: 40,635,372 (GRCm39)	Y175H	probably benign	Het
Vars2	T	C	17: 35,971,332 (GRCm39)	T568A	probably benign	Het
Vmn1r216	T	G	13: 23,283,339 (GRCm39)	D7E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp281	T	C	1: 136,553,250 (GRCm39)	V76A	probably benign	Het
Zfp36l2	T	C	17: 84,493,980 (GRCm39)	N219S	probably damaging	Het
Zfp626	T	C	7: 27,507,717 (GRCm39)	M42T	probably benign	Het
Zscan21	C	T	5: 138,123,359 (GRCm39)	P13S	probably benign	Het

Other mutations in Nipsnap3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03032:Nipsnap3b	APN	4	53,015,016 (GRCm39)	missense	possibly damaging	0.80
R0008:Nipsnap3b	UTSW	4	53,015,112 (GRCm39)	missense	probably damaging	1.00
R0008:Nipsnap3b	UTSW	4	53,015,112 (GRCm39)	missense	probably damaging	1.00
R0148:Nipsnap3b	UTSW	4	53,017,088 (GRCm39)	missense	possibly damaging	0.56
R0518:Nipsnap3b	UTSW	4	53,021,343 (GRCm39)	missense	probably damaging	0.99
R1261:Nipsnap3b	UTSW	4	53,015,166 (GRCm39)	missense	probably damaging	1.00
R1262:Nipsnap3b	UTSW	4	53,015,166 (GRCm39)	missense	probably damaging	1.00
R1954:Nipsnap3b	UTSW	4	53,017,213 (GRCm39)	splice site	probably benign
R5861:Nipsnap3b	UTSW	4	53,021,177 (GRCm39)	missense	probably damaging	1.00
R6950:Nipsnap3b	UTSW	4	53,015,136 (GRCm39)	missense	possibly damaging	0.90
R7076:Nipsnap3b	UTSW	4	53,021,095 (GRCm39)	splice site	probably null
R8397:Nipsnap3b	UTSW	4	53,012,049 (GRCm39)	critical splice donor site	probably null
R9125:Nipsnap3b	UTSW	4	53,021,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATAGCACATCTTCGCATGTAAG -3'
(R):5'- ATCTCAATACTCACAGCGTTATTCC -3'

Sequencing Primer
(F):5'- CGCATGTAAGTGTTTCCAAAGCC -3'
(R):5'- TTTCAGTCATGACAATTCACAGTGCC -3'

Posted On

2018-02-27