Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Nckipsd'

706584

Institutional Source

Beutler Lab

Gene Symbol

Nckipsd

Ensembl Gene

ENSMUSG00000032598

Gene Name

NCK interacting protein with SH3 domain

Synonyms

ORF1, DIP1, Wasbp, SPIN90, AF3P21, WISH

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108685567-108696043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108691699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 466 (I466T)

Ref Sequence

ENSEMBL: ENSMUSP00000035218 (fasta)

Gene Model

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

AlphaFold

Q9ESJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035218
AA Change: I466T

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: I466T

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,895,499 (GRCm39)	M194K	probably benign	Het
Abcg1	T	C	17: 31,333,122 (GRCm39)	S622P	probably benign	Het
Ahnak2	A	T	12: 112,748,446 (GRCm39)	V467E		Het
Amdhd2	T	C	17: 24,377,421 (GRCm39)	E164G	probably benign	Het
Ank3	G	A	10: 69,812,086 (GRCm39)		probably null	Het
Bank1	A	T	3: 135,799,308 (GRCm39)	N545K	probably benign	Het
C9orf72	A	G	4: 35,205,883 (GRCm39)	I247T		Het
Cep63	T	C	9: 102,467,723 (GRCm39)	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653 (GRCm39)	D65G	unknown	Het
Cspg4b	C	A	13: 113,453,710 (GRCm39)	Q58K		Het
Cyp2c50	A	G	19: 40,079,010 (GRCm39)	N118D	probably benign	Het
Dock10	C	T	1: 80,510,184 (GRCm39)	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,991,435 (GRCm39)	E44G	probably benign	Het
Ephb4	T	C	5: 137,361,529 (GRCm39)	S520P	probably damaging	Het
Eppk1	T	C	15: 75,993,755 (GRCm39)	E1042G	probably benign	Het
Fmod	A	T	1: 133,968,589 (GRCm39)	N210Y	probably damaging	Het
Fpr3	A	G	17: 18,191,713 (GRCm39)	D328G	probably damaging	Het
Garem2	T	G	5: 30,321,989 (GRCm39)	C783G	probably benign	Het
Gm10542	A	G	18: 44,337,689 (GRCm39)	N56D	probably damaging	Het
Gm20939	T	A	17: 95,184,424 (GRCm39)	N357K	probably benign	Het
Hr	A	G	14: 70,805,228 (GRCm39)	H990R	possibly damaging	Het
Il21r	A	G	7: 125,226,163 (GRCm39)	N53S	unknown	Het
Insrr	C	T	3: 87,721,604 (GRCm39)	T1170I	probably damaging	Het
Itga11	A	G	9: 62,638,034 (GRCm39)	M103V	probably damaging	Het
Izumo3	G	T	4: 92,035,050 (GRCm39)	Q56K	probably damaging	Het
Kcnh8	T	C	17: 53,146,084 (GRCm39)	V324A	probably damaging	Het
Kcnj2	T	A	11: 110,963,719 (GRCm39)	N370K	probably benign	Het
Klf16	G	T	10: 80,412,688 (GRCm39)	S116*	probably null	Het
Mettl16	T	C	11: 74,696,089 (GRCm39)	V310A	probably benign	Het
Misp3	G	T	8: 84,737,080 (GRCm39)	Q105K	unknown	Het
Mmrn2	G	A	14: 34,097,473 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,645,130 (GRCm39)	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,365,429 (GRCm39)	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,489,705 (GRCm39)		probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npffr2	A	G	5: 89,730,661 (GRCm39)	H197R	probably benign	Het
Nrap	T	A	19: 56,340,100 (GRCm39)	M842L	probably benign	Het
Nxpe4	G	A	9: 48,309,984 (GRCm39)	A416T	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or51t4	T	C	7: 102,597,687 (GRCm39)	V5A	probably benign	Het
Or52n20	A	G	7: 104,320,742 (GRCm39)	I278V	probably damaging	Het
Or5p53	T	A	7: 107,533,019 (GRCm39)	C97*	probably null	Het
Ppp1r15a	C	T	7: 45,174,035 (GRCm39)	A258T	possibly damaging	Het
Prss36	A	T	7: 127,532,570 (GRCm39)	Y760*	probably null	Het
Psg26	T	A	7: 18,216,480 (GRCm39)	T120S	probably damaging	Het
Ptk7	A	T	17: 46,878,977 (GRCm39)	L908Q	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc25a44	A	T	3: 88,328,025 (GRCm39)	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,321,486 (GRCm39)	T894A	probably damaging	Het
Tle4	A	G	19: 14,574,149 (GRCm39)	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Tmt1b	A	G	10: 128,794,607 (GRCm39)	M239T	probably benign	Het
Trpm3	T	C	19: 22,896,004 (GRCm39)	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,379,448 (GRCm39)	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,474,532 (GRCm39)	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,996,841 (GRCm39)	T143A	probably damaging	Het
Vps26b	T	C	9: 26,930,750 (GRCm39)	N82D	probably benign	Het
Zfp318	T	G	17: 46,721,892 (GRCm39)	F1298L	probably damaging	Het

Other mutations in Nckipsd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Nckipsd	APN	9	108,692,168 (GRCm39)	missense	probably benign	0.07
IGL01601:Nckipsd	APN	9	108,691,154 (GRCm39)	missense	probably benign	0.00
IGL01809:Nckipsd	APN	9	108,694,753 (GRCm39)	missense	probably damaging	1.00
IGL03229:Nckipsd	APN	9	108,688,813 (GRCm39)	missense	probably benign
R0714:Nckipsd	UTSW	9	108,691,333 (GRCm39)	unclassified	probably benign
R1323:Nckipsd	UTSW	9	108,689,778 (GRCm39)	missense	probably damaging	1.00
R1323:Nckipsd	UTSW	9	108,689,778 (GRCm39)	missense	probably damaging	1.00
R1543:Nckipsd	UTSW	9	108,689,571 (GRCm39)	missense	possibly damaging	0.62
R1958:Nckipsd	UTSW	9	108,691,863 (GRCm39)	splice site	probably null
R2127:Nckipsd	UTSW	9	108,688,932 (GRCm39)	missense	probably benign
R3697:Nckipsd	UTSW	9	108,688,320 (GRCm39)	missense	probably damaging	1.00
R3698:Nckipsd	UTSW	9	108,688,320 (GRCm39)	missense	probably damaging	1.00
R3921:Nckipsd	UTSW	9	108,691,275 (GRCm39)	missense	possibly damaging	0.81
R4755:Nckipsd	UTSW	9	108,691,938 (GRCm39)	missense	probably benign	0.28
R4879:Nckipsd	UTSW	9	108,691,114 (GRCm39)	unclassified	probably benign
R5796:Nckipsd	UTSW	9	108,688,813 (GRCm39)	missense	probably benign
R5891:Nckipsd	UTSW	9	108,685,808 (GRCm39)	missense	probably damaging	1.00
R5943:Nckipsd	UTSW	9	108,689,435 (GRCm39)	missense	possibly damaging	0.54
R5994:Nckipsd	UTSW	9	108,691,176 (GRCm39)	missense	probably benign	0.00
R6144:Nckipsd	UTSW	9	108,689,585 (GRCm39)	missense	probably damaging	1.00
R6403:Nckipsd	UTSW	9	108,688,882 (GRCm39)	missense	possibly damaging	0.71
R7413:Nckipsd	UTSW	9	108,691,280 (GRCm39)	missense	probably benign	0.30
R7676:Nckipsd	UTSW	9	108,692,153 (GRCm39)	missense	probably damaging	1.00
R7702:Nckipsd	UTSW	9	108,691,216 (GRCm39)	nonsense	probably null
R7893:Nckipsd	UTSW	9	108,692,588 (GRCm39)	missense	probably damaging	1.00
R8257:Nckipsd	UTSW	9	108,692,127 (GRCm39)	missense	probably benign	0.10
R9353:Nckipsd	UTSW	9	108,691,471 (GRCm39)	missense	probably damaging	0.99
R9484:Nckipsd	UTSW	9	108,689,837 (GRCm39)	missense	probably damaging	1.00
Y4335:Nckipsd	UTSW	9	108,694,744 (GRCm39)	missense	probably damaging	1.00
Z1088:Nckipsd	UTSW	9	108,691,876 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCGAAGTTTGCAAGAAAATGTG -3'
(R):5'- GGGCAGAGTAACAGAGCTTC -3'

Sequencing Primer
(F):5'- CAAAAGGAGTGATTTTGAGTCTGTCC -3'
(R):5'- AGAGCTTCTGGTGGTCTGG -3'

Posted On

2022-04-18