Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Nyap1'

638062

Institutional Source

Beutler Lab

Gene Symbol

Nyap1

Ensembl Gene

ENSMUSG00000045348

Gene Name

neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1

Synonyms

6430598A04Rik, Nyap1

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137729144-137739430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137730077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 790 (R790H)

Ref Sequence

ENSEMBL: ENSMUSP00000113397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061789] [ENSMUST00000118326] [ENSMUST00000149512] [ENSMUST00000212152]

AlphaFold

Q6PFX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061789
AA Change: R790H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: R790H

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	1.5e-127	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	833	1.7e-180	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118326
AA Change: R790H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: R790H

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	1.5e-127	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	833	1.7e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149512

SMART Domains

Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	7.1e-128	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	771	1.9e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212152
AA Change: R789H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly damaging	Het

Other mutations in Nyap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Nyap1	APN	5	137,736,346 (GRCm39)	missense	probably damaging	1.00
IGL02211:Nyap1	APN	5	137,737,937 (GRCm39)	missense	probably damaging	0.99
IGL02658:Nyap1	APN	5	137,733,746 (GRCm39)	missense	probably damaging	0.99
IGL03493:Nyap1	APN	5	137,733,278 (GRCm39)	missense	probably damaging	1.00
R0180:Nyap1	UTSW	5	137,736,283 (GRCm39)	missense	probably damaging	1.00
R0731:Nyap1	UTSW	5	137,733,560 (GRCm39)	missense	probably damaging	1.00
R1215:Nyap1	UTSW	5	137,733,395 (GRCm39)	nonsense	probably null
R1741:Nyap1	UTSW	5	137,731,387 (GRCm39)	missense	probably damaging	1.00
R1953:Nyap1	UTSW	5	137,733,294 (GRCm39)	missense	probably benign	0.01
R2006:Nyap1	UTSW	5	137,733,953 (GRCm39)	missense	possibly damaging	0.81
R2131:Nyap1	UTSW	5	137,731,943 (GRCm39)	intron	probably null
R2244:Nyap1	UTSW	5	137,733,576 (GRCm39)	missense	probably damaging	1.00
R4581:Nyap1	UTSW	5	137,734,284 (GRCm39)	missense	probably damaging	1.00
R4857:Nyap1	UTSW	5	137,733,840 (GRCm39)	missense	probably damaging	0.98
R5151:Nyap1	UTSW	5	137,734,376 (GRCm39)	missense	probably damaging	0.99
R5533:Nyap1	UTSW	5	137,733,726 (GRCm39)	missense	probably benign	0.15
R5695:Nyap1	UTSW	5	137,733,246 (GRCm39)	missense	probably damaging	1.00
R7201:Nyap1	UTSW	5	137,734,524 (GRCm39)	missense	probably damaging	1.00
R7210:Nyap1	UTSW	5	137,736,244 (GRCm39)	missense	probably damaging	1.00
R7374:Nyap1	UTSW	5	137,733,791 (GRCm39)	missense	probably damaging	1.00
R7434:Nyap1	UTSW	5	137,734,530 (GRCm39)	missense	probably damaging	1.00
R7658:Nyap1	UTSW	5	137,731,236 (GRCm39)	missense	probably benign
R7870:Nyap1	UTSW	5	137,733,658 (GRCm39)	nonsense	probably null
R7913:Nyap1	UTSW	5	137,733,231 (GRCm39)	missense	probably damaging	1.00
R8422:Nyap1	UTSW	5	137,734,083 (GRCm39)	missense	probably benign	0.01
R9145:Nyap1	UTSW	5	137,736,175 (GRCm39)	missense	probably benign
R9367:Nyap1	UTSW	5	137,734,248 (GRCm39)	missense	probably damaging	1.00
R9441:Nyap1	UTSW	5	137,733,194 (GRCm39)	missense	probably benign	0.02
R9568:Nyap1	UTSW	5	137,733,394 (GRCm39)	nonsense	probably null
R9680:Nyap1	UTSW	5	137,733,840 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCATCTCTCAAGCCTCAAGG -3'
(R):5'- ATTGGTTTGGTCACAAGGTCC -3'

Sequencing Primer
(F):5'- TCTCAAGCCTCAAGGAGACCTAGG -3'
(R):5'- TTGGTCACAAGGTCCTTGAC -3'

Posted On

2020-07-28