Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Nckipsd'

716452

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: 0.438) question?

Stock #

R9484 (G1)

Quality Score

170.009

Status

Not validated

Chromosome

Chromosomal Location

108685567-108696043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108689837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 333 (H333N)

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: H333N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: H333N

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,845 (GRCm39)	C151S	probably damaging	Het
Actr8	T	C	14: 29,708,301 (GRCm39)	I193T	probably benign	Het
Btbd2	T	C	10: 80,480,103 (GRCm39)	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,561,831 (GRCm39)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,646 (GRCm39)	Y214C	probably benign	Het
Calu	T	A	6: 29,366,162 (GRCm39)	L180Q	probably damaging	Het
Corin	C	T	5: 72,497,280 (GRCm39)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,744,983 (GRCm39)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,431,711 (GRCm39)	A96S	unknown	Het
Ddx24	A	T	12: 103,377,555 (GRCm39)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,533,308 (GRCm39)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,900,508 (GRCm39)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,517,773 (GRCm39)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,625,311 (GRCm39)	I4064T	probably benign	Het
Dock9	A	C	14: 121,818,844 (GRCm39)	V1546G	probably damaging	Het
Eif1ad4	A	T	12: 87,862,249 (GRCm39)	Q37L	possibly damaging	Het
Eif3a	A	T	19: 60,755,006 (GRCm39)	S1059T	unknown	Het
Ep300	A	G	15: 81,521,026 (GRCm39)	E1262G	unknown	Het
Evl	T	A	12: 108,652,716 (GRCm39)	I387N	probably damaging	Het
Fat2	A	C	11: 55,200,752 (GRCm39)	V774G	probably damaging	Het
Fez1	T	A	9: 36,755,093 (GRCm39)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,313,960 (GRCm39)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 30,973,038 (GRCm39)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,779,496 (GRCm39)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,609,026 (GRCm39)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm39)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,508,403 (GRCm39)	D527G	probably damaging	Het
H2-Ob	T	A	17: 34,459,989 (GRCm39)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,492,239 (GRCm39)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,440,915 (GRCm39)	T33S	probably benign	Het
Igkv4-80	T	A	6: 68,993,766 (GRCm39)	T42S	probably damaging	Het
Irs2	C	T	8: 11,057,334 (GRCm39)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,068 (GRCm39)	C302S	unknown	Het
Lgi1	A	G	19: 38,294,757 (GRCm39)	K510E	probably benign	Het
Lgi2	T	A	5: 52,695,936 (GRCm39)	D341V	probably benign	Het
Lin7c	T	C	2: 109,724,813 (GRCm39)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,531,573 (GRCm39)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm39)	I315M	probably benign	Het
Mtcl3	G	A	10: 29,072,969 (GRCm39)	D754N	probably damaging	Het
Myo5c	A	T	9: 75,204,770 (GRCm39)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,003,019 (GRCm39)	M373L	probably benign	Het
Nrg2	A	T	18: 36,157,401 (GRCm39)	L428Q	probably null	Het
Or13a20	T	C	7: 140,231,904 (GRCm39)	L4S	probably benign	Het
Or2b28	C	A	13: 21,531,587 (GRCm39)	T163K	probably damaging	Het
Or5an11	T	C	19: 12,245,735 (GRCm39)	I47T	possibly damaging	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otogl	C	T	10: 107,737,156 (GRCm39)	G86D	probably damaging	Het
Papln	A	T	12: 83,838,618 (GRCm39)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,327,202 (GRCm39)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,095,260 (GRCm39)	I35T	probably benign	Het
Pros1	A	G	16: 62,744,887 (GRCm39)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,625,821 (GRCm39)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,408,443 (GRCm39)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,294,233 (GRCm39)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,009,615 (GRCm39)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,879,773 (GRCm39)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,511,785 (GRCm39)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,227,060 (GRCm39)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,854,672 (GRCm39)	V660I	probably benign	Het
Smyd1	A	G	6: 71,202,450 (GRCm39)	Y252H	probably damaging	Het
Spp2	A	T	1: 88,334,695 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,911,121 (GRCm39)	W250R	probably damaging	Het
Syne1	A	C	10: 5,170,359 (GRCm39)	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,012,684 (GRCm39)	S1203P	probably damaging	Het
Th	C	A	7: 142,453,620 (GRCm39)	E27*	probably null	Het
Thada	C	A	17: 84,736,619 (GRCm39)	L887F	probably damaging	Het
Timm23	T	C	14: 31,902,586 (GRCm39)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,860,420 (GRCm39)	E555V	probably damaging	Het
Tnik	A	T	3: 28,649,093 (GRCm39)	Q457L	unknown	Het
Uba7	C	A	9: 107,861,037 (GRCm39)	H942Q	probably benign	Het
Upf2	T	C	2: 5,966,078 (GRCm39)	S233P	unknown	Het
Urm1	T	A	2: 29,732,760 (GRCm39)	N72K	probably damaging	Het
Usp10	T	C	8: 120,675,504 (GRCm39)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,499,081 (GRCm39)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,872,404 (GRCm39)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,327,429 (GRCm39)	T105M	probably benign	Het
Zfp341	T	A	2: 154,485,763 (GRCm39)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,848,984 (GRCm39)	T73A	probably benign	Het
Zfp574	A	T	7: 24,781,404 (GRCm39)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,108,108 (GRCm39)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,239,581 (GRCm39)	I390V	possibly 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
R9327:Nckipsd	UTSW	9	108,691,699 (GRCm39)	missense	possibly damaging	0.49
R9353:Nckipsd	UTSW	9	108,691,471 (GRCm39)	missense	probably damaging	0.99
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'- AACCCCTGATGACTTGGAAGC -3'
(R):5'- ATGACTCTAGGACCCAGCAC -3'

Sequencing Primer
(F):5'- CCTGATGACTTGGAAGCTCAGG -3'
(R):5'- GGCCAGAGCTTGACAAATACCTG -3'

Posted On

2022-07-18