Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Nos1ap'

427511

Institutional Source

Beutler Lab

Gene Symbol

Nos1ap

Ensembl Gene

ENSMUSG00000038473

Gene Name

nitric oxide synthase 1 (neuronal) adaptor protein

Synonyms

6330408P19Rik

MMRRC Submission

042981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170143039-170417371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 170176968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 145 (K145M)

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: K145M

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

SMART Domains

Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: K145M

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: K91M

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

SMART Domains

Protein: ENSMUSP00000125687
Gene: ENSMUSG00000038473
AA Change: K91M

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: K96M

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

SMART Domains

Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473
AA Change: K96M

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: K145M

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

SMART Domains

Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: K145M

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

0.7375

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
C3	T	C	17: 57,527,187 (GRCm39)	D754G	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,510,529 (GRCm39)		probably benign	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Krt16	T	A	11: 100,137,593 (GRCm39)	I371F	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,195 (GRCm39)	R121L	probably damaging	Het
Or6a2	A	G	7: 106,600,842 (GRCm39)	V75A	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	possibly 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
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
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'- CAATGGACTAAGCACACAGTTC -3'
(R):5'- AGTGAGCTCTGTCTTCTGCC -3'

Sequencing Primer
(F):5'- TGGACTAAGCACACAGTTCAGATGAC -3'
(R):5'- CTCCCGTGAGCAGAGGTTTC -3'

Posted On

2016-09-01