Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Nos1ap'

310315

Institutional Source

Beutler Lab

Gene Symbol

Nos1ap

Ensembl Gene

ENSMUSG00000038473

Gene Name

nitric oxide synthase 1 (neuronal) adaptor protein

Synonyms

6330408P19Rik

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170143039-170417371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170177025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 126 (Y126C)

Ref Sequence

ENSEMBL: ENSMUSP00000124240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160456] [ENSMUST00000160466] [ENSMUST00000161485] [ENSMUST00000161966]

AlphaFold

Q9D3A8

Predicted Effect

probably damaging
Transcript: ENSMUST00000160456
AA Change: Y126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: Y126C

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

probably damaging
Transcript: ENSMUST00000160466
AA Change: Y72C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125687
Gene: ENSMUSG00000038473
AA Change: Y72C

Domain	Start	End	E-Value	Type
Pfam:PID	1	116	4e-25	PFAM
low complexity region	212	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160816

Predicted Effect

probably damaging
Transcript: ENSMUST00000161485
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473
AA Change: Y77C

Domain	Start	End	E-Value	Type
Pfam:PID	1	121	3e-26	PFAM
low complexity region	213	228	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161966
AA Change: Y126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: Y126C

Domain	Start	End	E-Value	Type
PTB	27	173	3.59e-42	SMART
low complexity region	266	285	N/A	INTRINSIC
low complexity region	290	322	N/A	INTRINSIC

Meta Mutation Damage Score

0.9680

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	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
R0621:Nos1ap	UTSW	1	170,146,150 (GRCm39)	missense	probably damaging	0.99
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
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'- GTGCGGTATTAAAATAGCCACC -3'
(R):5'- CAGCCATGTTTGTAGAGCCTG -3'

Sequencing Primer
(F):5'- CTCCAAACCTTCAACGGGGAG -3'
(R):5'- TAGAGCCTGTGGAAAGTGCCTC -3'

Posted On

2015-04-17