Mutagenetix > Incidental Mutation

Incidental Mutation 'R0621:Nos1ap'

58645

Institutional Source

Beutler Lab

Gene Symbol

Nos1ap

Ensembl Gene

ENSMUSG00000038473

Gene Name

nitric oxide synthase 1 (neuronal) adaptor protein

Synonyms

6330408P19Rik

MMRRC Submission

038810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0621 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

170143039-170417371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170146150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 468 (D468G)

Ref Sequence

ENSEMBL: ENSMUSP00000125251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160456]

AlphaFold

Q9D3A8

Predicted Effect

probably damaging
Transcript: ENSMUST00000160456
AA Change: D468G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: D468G

Domain	Start	End	E-Value	Type
PTB	27	173	3.59e-42	SMART
low complexity region	266	313	N/A	INTRINSIC
low complexity region	316	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162709

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,399,898 (GRCm39)	D33G	probably damaging	Het
Adgre1	T	A	17: 57,748,359 (GRCm39)	S520T	probably damaging	Het
Afg2a	C	T	3: 37,486,178 (GRCm39)	T300I	probably benign	Het
Ankrd40	A	G	11: 94,230,433 (GRCm39)		probably null	Het
Aph1b	A	T	9: 66,686,616 (GRCm39)	I177K	possibly damaging	Het
Armc3	A	T	2: 19,300,204 (GRCm39)	N579I	probably damaging	Het
Atxn7l1	T	C	12: 33,376,099 (GRCm39)	V131A	probably benign	Het
C130073F10Rik	A	G	4: 101,747,992 (GRCm39)	Y61H	probably damaging	Het
C1s2	A	T	6: 124,608,071 (GRCm39)	L214Q	probably damaging	Het
Caprin2	A	T	6: 148,760,176 (GRCm39)	S425T	possibly damaging	Het
Cdc42ep4	G	A	11: 113,619,522 (GRCm39)	R290C	probably damaging	Het
Cenpf	T	C	1: 189,404,825 (GRCm39)	T352A	probably benign	Het
Col6a4	A	T	9: 105,943,990 (GRCm39)	F1161L	probably damaging	Het
Dctn2	T	C	10: 127,113,809 (GRCm39)		probably null	Het
Ddx24	T	C	12: 103,391,817 (GRCm39)		probably benign	Het
Dsg1c	C	A	18: 20,412,752 (GRCm39)	A591D	possibly damaging	Het
Efnb3	T	C	11: 69,446,798 (GRCm39)	D304G	probably damaging	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Eya3	T	G	4: 132,422,113 (GRCm39)	D275E	probably benign	Het
Fam81a	G	T	9: 70,000,929 (GRCm39)	Q272K	probably benign	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Gm9637	G	A	14: 19,402,011 (GRCm38)		noncoding transcript	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gtf2h2	A	T	13: 100,625,433 (GRCm39)	L61Q	probably damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hoxb3	A	T	11: 96,236,789 (GRCm39)	Y289F	probably damaging	Het
Kctd3	C	T	1: 188,713,538 (GRCm39)	R399Q	probably damaging	Het
Kif26b	C	G	1: 178,743,218 (GRCm39)	P1105A	probably benign	Het
Klhl30	C	T	1: 91,285,585 (GRCm39)	T369M	probably damaging	Het
Lipo2	C	T	19: 33,708,339 (GRCm39)	G225D	probably damaging	Het
Macf1	T	C	4: 123,274,327 (GRCm39)	K6350E	probably damaging	Het
Myh13	A	C	11: 67,232,058 (GRCm39)	N446T	probably damaging	Het
Or10j2	C	T	1: 173,098,242 (GRCm39)	P167S	possibly damaging	Het
Or11h7	G	A	14: 50,891,419 (GRCm39)	G242R	possibly damaging	Het
Or4a77	C	A	2: 89,487,459 (GRCm39)	E109*	probably null	Het
Pde3a	T	C	6: 141,195,725 (GRCm39)	L137P	probably damaging	Het
Ppm1f	G	A	16: 16,733,172 (GRCm39)	R233Q	probably benign	Het
Rtf2	C	A	2: 172,308,216 (GRCm39)	A205E	possibly damaging	Het
Sh2d5	T	C	4: 137,985,629 (GRCm39)	F359S	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc39a11	G	A	11: 113,354,905 (GRCm39)	P108L	probably benign	Het
Slc6a5	G	A	7: 49,567,113 (GRCm39)		probably null	Het
Snph	C	T	2: 151,435,642 (GRCm39)	V360M	probably damaging	Het
Snx29	A	G	16: 11,223,651 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,759,408 (GRCm39)		probably null	Het
St8sia6	T	A	2: 13,662,093 (GRCm39)	N246I	probably damaging	Het
Thy1	T	A	9: 43,958,030 (GRCm39)	F53I	probably damaging	Het
Tle3	T	A	9: 61,317,387 (GRCm39)	Y421*	probably null	Het
Ttc21b	C	T	2: 66,056,355 (GRCm39)	R677Q	probably benign	Het
Vmn2r107	A	T	17: 20,595,252 (GRCm39)	I602F	probably benign	Het
Wdr17	C	A	8: 55,096,226 (GRCm39)	G1016C	probably benign	Het
Wdr62	T	C	7: 29,953,486 (GRCm39)	E182G	possibly damaging	Het
Zfp597	A	G	16: 3,684,228 (GRCm39)	I176T	probably benign	Het

Other mutations in Nos1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Nos1ap	APN	1	170,342,175 (GRCm39)	splice site	probably benign
IGL01151:Nos1ap	APN	1	170,416,845 (GRCm39)	missense	probably damaging	1.00
IGL02056:Nos1ap	APN	1	170,146,192 (GRCm39)	missense	possibly damaging	0.93
IGL02712:Nos1ap	APN	1	170,156,820 (GRCm39)	missense	possibly damaging	0.93
IGL03177:Nos1ap	APN	1	170,218,299 (GRCm39)	critical splice donor site	probably null
R0096:Nos1ap	UTSW	1	170,156,816 (GRCm39)	missense	probably damaging	1.00
R0096:Nos1ap	UTSW	1	170,156,816 (GRCm39)	missense	probably damaging	1.00
R1332:Nos1ap	UTSW	1	170,177,001 (GRCm39)	missense	probably damaging	1.00
R1523:Nos1ap	UTSW	1	170,165,687 (GRCm39)	missense	probably benign	0.03
R1660:Nos1ap	UTSW	1	170,342,206 (GRCm39)	missense	possibly damaging	0.89
R1704:Nos1ap	UTSW	1	170,165,781 (GRCm39)	missense	probably damaging	1.00
R1764:Nos1ap	UTSW	1	170,146,447 (GRCm39)	missense	possibly damaging	0.83
R1905:Nos1ap	UTSW	1	170,146,127 (GRCm39)	missense	possibly damaging	0.70
R2056:Nos1ap	UTSW	1	170,155,215 (GRCm39)	missense	probably damaging	1.00
R2140:Nos1ap	UTSW	1	170,156,735 (GRCm39)	missense	probably damaging	0.97
R2141:Nos1ap	UTSW	1	170,156,735 (GRCm39)	missense	probably damaging	0.97
R3890:Nos1ap	UTSW	1	170,177,025 (GRCm39)	missense	probably damaging	1.00
R3891:Nos1ap	UTSW	1	170,177,025 (GRCm39)	missense	probably damaging	1.00
R3892:Nos1ap	UTSW	1	170,177,025 (GRCm39)	missense	probably damaging	1.00
R4109:Nos1ap	UTSW	1	170,146,237 (GRCm39)	missense	probably benign
R5305:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5306:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5412:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5414:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5444:Nos1ap	UTSW	1	170,202,820 (GRCm39)	missense	probably damaging	1.00
R5636:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5637:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5638:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5753:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5754:Nos1ap	UTSW	1	170,176,968 (GRCm39)	missense	probably damaging	1.00
R5787:Nos1ap	UTSW	1	170,146,141 (GRCm39)	missense	probably benign	0.41
R7060:Nos1ap	UTSW	1	170,165,694 (GRCm39)	missense	possibly damaging	0.87
R8161:Nos1ap	UTSW	1	170,218,328 (GRCm39)	missense	probably damaging	1.00
R8397:Nos1ap	UTSW	1	170,155,194 (GRCm39)	missense	unknown
RF009:Nos1ap	UTSW	1	170,146,150 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTCCACCCCATTCAGACATTAGC -3'
(R):5'- CAGCCCTTTAGGTAGGCATGACTG -3'

Sequencing Primer
(F):5'- CAGAAGACAGGTGCTGATTCC -3'
(R):5'- CATGACTGCTTGGTGAAGCTG -3'

Posted On

2013-07-11