Mutagenetix > Incidental Mutation

Incidental Mutation 'R7893:Nckipsd'

609450

Institutional Source

Beutler Lab

Gene Symbol

Nckipsd

Ensembl Gene

ENSMUSG00000032598

Gene Name

NCK interacting protein with SH3 domain

Synonyms

AF3P21, Wasbp, SPIN90, DIP1, WISH, ORF1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R7893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108808368-108818844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108815389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 604 (H604R)

Ref Sequence

ENSEMBL: ENSMUSP00000035218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]

AlphaFold

Q9ESJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035218
AA Change: H604R

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

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: H604R

Domain	Start	End	E-Value	Type
SH3	1	57	2.21e-9	SMART
low complexity region	162	179	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	230	240	N/A	INTRINSIC
low complexity region	249	271	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC
Pfam:DUF2013	539	675	5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192678

Predicted Effect

probably benign
Transcript: ENSMUST00000194819

SMART Domains

Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598

Domain	Start	End	E-Value	Type
SH3	1	52	3.3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195323

SMART Domains

Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598

Domain	Start	End	E-Value	Type
SH3	1	57	1.4e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation exhibit altered protein composition of postsynaptic densities and actin cytoskeleton in hippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,539	W291R	probably damaging	Het
9130019O22Rik	T	A	7: 127,386,544		probably benign	Het
Abca3	A	T	17: 24,385,466	I604F	probably damaging	Het
Adar	T	A	3: 89,750,651	D1062E	probably damaging	Het
Agap2	A	G	10: 127,080,195	T192A	unknown	Het
Aim2	T	C	1: 173,463,926	V299A	possibly damaging	Het
Arhgap33	T	C	7: 30,528,776	I394V	probably benign	Het
Atg2a	T	C	19: 6,251,296	F800S	probably damaging	Het
Btnl10	T	A	11: 58,923,809	N438K	probably benign	Het
C9	T	A	15: 6,483,245	F283I	possibly damaging	Het
Camk2n2	T	C	16: 20,621,076	N40S	possibly damaging	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Col4a1	T	C	8: 11,220,243	D45G	unknown	Het
Copa	T	A	1: 172,119,565	C1085*	probably null	Het
Cpt1b	A	G	15: 89,423,654		probably null	Het
Cyp24a1	C	G	2: 170,496,516		probably null	Het
Cyp2c40	A	T	19: 39,786,848	V320E	probably damaging	Het
Efcab7	A	T	4: 99,888,861	D210V	probably damaging	Het
Elfn2	G	A	15: 78,673,168	T393I	probably damaging	Het
Fbxw11	A	T	11: 32,720,489	I152L	probably benign	Het
Gab1	A	T	8: 80,784,766	F483L	possibly damaging	Het
Git2	G	T	5: 114,769,676	R43S	possibly damaging	Het
Gm11639	A	C	11: 104,979,360	S3985R	unknown	Het
Gm43302	G	A	5: 105,289,025	Q72*	probably null	Het
Hcn2	T	C	10: 79,724,411	L192P	probably damaging	Het
Htra4	A	C	8: 25,033,679	F290C	possibly damaging	Het
Ide	C	T	19: 37,284,151	V731I		Het
Igsf9	T	C	1: 172,497,302	L929P	probably damaging	Het
Iqgap2	G	A	13: 95,689,709	A535V	probably damaging	Het
Itga10	T	C	3: 96,649,612	W217R	probably damaging	Het
Kdm2b	A	G	5: 122,947,739	F276L	probably benign	Het
Klf16	T	C	10: 80,576,960	S81G	probably benign	Het
L1td1	G	T	4: 98,733,741	C180F	possibly damaging	Het
Map4k2	A	C	19: 6,353,511	H817P	probably damaging	Het
Marf1	A	T	16: 14,146,735	V446D	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Nedd9	A	T	13: 41,315,789	D629E	probably damaging	Het
Nlrp5	C	T	7: 23,418,165	T438I	probably benign	Het
Olfr1238	T	A	2: 89,407,070	Q3L	probably benign	Het
Olfr507	A	G	7: 108,622,637	K275R	probably damaging	Het
Olfr610	A	T	7: 103,506,610	I112N	possibly damaging	Het
Otud7a	G	T	7: 63,758,552	D868Y	probably damaging	Het
Pcdhga6	T	C	18: 37,708,013	L262S	probably damaging	Het
Plec	C	T	15: 76,172,532	V4402I	possibly damaging	Het
Ppp1r14c	A	T	10: 3,423,510	D107V	probably damaging	Het
Prkg1	A	T	19: 30,586,367	C482S	probably damaging	Het
Prpf40a	A	T	2: 53,156,841	N294K	probably benign	Het
Rbpj	A	G	5: 53,645,874	Y148C	probably damaging	Het
Rnf19a	A	G	15: 36,241,668	S742P	possibly damaging	Het
Rnf207	T	A	4: 152,311,438	Q533L	probably damaging	Het
Rsf1	A	G	7: 97,661,958	T632A		Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Sh2d3c	T	A	2: 32,749,376	C491*	probably null	Het
Sik1	A	T	17: 31,850,046	L285Q	probably benign	Het
Sipa1l1	T	A	12: 82,341,568	D189E	probably benign	Het
Slc25a25	G	A	2: 32,451,165	Q54*	probably null	Het
Slu7	T	C	11: 43,444,836		probably null	Het
Sorbs3	T	A	14: 70,193,916	N265I	probably benign	Het
Sspo	A	T	6: 48,463,310	E1645V	probably benign	Het
Swap70	A	G	7: 110,221,875	D22G	probably benign	Het
Ttc34	T	C	4: 154,861,300	C264R	probably benign	Het
Ttll2	T	A	17: 7,352,091	T146S	probably benign	Het
Ttn	C	T	2: 76,927,204	E3402K	unknown	Het
Twf1	A	T	15: 94,584,446	S140T	probably benign	Het
Vmn1r12	T	C	6: 57,159,434	L172P	probably damaging	Het
Vmn1r19	T	A	6: 57,404,679	N72K	probably damaging	Het
Vmn2r17	G	A	5: 109,428,078	E272K	probably benign	Het
Zfpm2	A	G	15: 41,102,612	D831G	probably damaging	Het

Other mutations in Nckipsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nckipsd	APN	9	108814969	missense	probably benign	0.07
IGL01601:Nckipsd	APN	9	108813955	missense	probably benign	0.00
IGL01809:Nckipsd	APN	9	108817554	missense	probably damaging	1.00
IGL03229:Nckipsd	APN	9	108811614	missense	probably benign
R0714:Nckipsd	UTSW	9	108814134	unclassified	probably benign
R1323:Nckipsd	UTSW	9	108812579	missense	probably damaging	1.00
R1323:Nckipsd	UTSW	9	108812579	missense	probably damaging	1.00
R1543:Nckipsd	UTSW	9	108812372	missense	possibly damaging	0.62
R1958:Nckipsd	UTSW	9	108814664	splice site	probably null
R2127:Nckipsd	UTSW	9	108811733	missense	probably benign
R3697:Nckipsd	UTSW	9	108811121	missense	probably damaging	1.00
R3698:Nckipsd	UTSW	9	108811121	missense	probably damaging	1.00
R3921:Nckipsd	UTSW	9	108814076	missense	possibly damaging	0.81
R4755:Nckipsd	UTSW	9	108814739	missense	probably benign	0.28
R4879:Nckipsd	UTSW	9	108813915	unclassified	probably benign
R5796:Nckipsd	UTSW	9	108811614	missense	probably benign
R5891:Nckipsd	UTSW	9	108808609	missense	probably damaging	1.00
R5943:Nckipsd	UTSW	9	108812236	missense	possibly damaging	0.54
R5994:Nckipsd	UTSW	9	108813977	missense	probably benign	0.00
R6144:Nckipsd	UTSW	9	108812386	missense	probably damaging	1.00
R6403:Nckipsd	UTSW	9	108811683	missense	possibly damaging	0.71
R7413:Nckipsd	UTSW	9	108814081	missense	probably benign	0.30
R7676:Nckipsd	UTSW	9	108814954	missense	probably damaging	1.00
R7702:Nckipsd	UTSW	9	108814017	nonsense	probably null
R8257:Nckipsd	UTSW	9	108814928	missense	probably benign	0.10
R9327:Nckipsd	UTSW	9	108814500	missense	possibly damaging	0.49
R9353:Nckipsd	UTSW	9	108814272	missense	probably damaging	0.99
R9484:Nckipsd	UTSW	9	108812638	missense	probably damaging	1.00
Y4335:Nckipsd	UTSW	9	108817545	missense	probably damaging	1.00
Z1088:Nckipsd	UTSW	9	108814677	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCCTGAGCAGAATGTCATCATG -3'
(R):5'- GTCACCCCTTTTGGTTAAGCTG -3'

Sequencing Primer
(F):5'- AGAATGTCATCATGGCTGCC -3'
(R):5'- CCCCTTTTGGTTAAGCTGCTGTG -3'

Posted On

2019-12-20