Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Nckipsd'

171936

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

039582-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108685567-108696043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108689571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 244 (A244D)

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: A244D

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: A244D

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

noncoding transcript
Transcript: ENSMUST00000192180

Predicted Effect

probably benign
Transcript: ENSMUST00000192678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194413

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,945,138 (GRCm39)	V206I	probably damaging	Het
Abca8b	A	C	11: 109,865,500 (GRCm39)	M319R	probably damaging	Het
Abcc6	T	C	7: 45,665,928 (GRCm39)	R231G	probably benign	Het
Acadm	A	G	3: 153,635,209 (GRCm39)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,760,352 (GRCm39)	R423S	probably damaging	Het
Adam7	T	A	14: 68,759,371 (GRCm39)		probably benign	Het
Adgrb3	A	C	1: 25,527,169 (GRCm39)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,564,909 (GRCm39)	F224V	probably damaging	Het
Adm2	G	C	15: 89,208,282 (GRCm39)	G74A	probably damaging	Het
Aen	T	A	7: 78,552,370 (GRCm39)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,169,160 (GRCm39)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,763,498 (GRCm39)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,620,324 (GRCm39)	R430H	probably benign	Het
Asb17	T	G	3: 153,550,148 (GRCm39)	L60W	probably damaging	Het
BC035044	T	C	6: 128,867,948 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,166,000 (GRCm39)	T1422A	probably benign	Het
Cacna2d1	A	T	5: 16,471,716 (GRCm39)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,511,160 (GRCm39)		probably benign	Het
Cemip2	G	T	19: 21,789,937 (GRCm39)	A668S	probably benign	Het
Coro2b	C	T	9: 62,333,123 (GRCm39)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,415,353 (GRCm39)		probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dclk3	A	G	9: 111,297,122 (GRCm39)	H222R	probably benign	Het
Deaf1	A	G	7: 140,904,060 (GRCm39)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,194,516 (GRCm39)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,727,268 (GRCm39)	V605E	probably benign	Het
Dync2i1	T	C	12: 116,195,404 (GRCm39)		probably benign	Het
Frem2	A	T	3: 53,479,876 (GRCm39)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,811,931 (GRCm39)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,800,161 (GRCm39)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,707,410 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,685,480 (GRCm39)	H45R	probably benign	Het
Hyal2	T	C	9: 107,447,386 (GRCm39)	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,221,997 (GRCm39)	R479W	probably damaging	Het
Lilrb4b	A	G	10: 51,357,517 (GRCm39)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,247,930 (GRCm39)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,331,074 (GRCm39)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,610,844 (GRCm39)	K527E	probably benign	Het
Map10	C	T	8: 126,397,611 (GRCm39)	P335S	probably benign	Het
Mast3	A	G	8: 71,244,955 (GRCm39)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 120,268,808 (GRCm39)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Nt5el	A	T	13: 105,248,877 (GRCm39)	R364*	probably null	Het
Or12k5	C	A	2: 36,895,139 (GRCm39)	L162F	probably damaging	Het
Or1j1	A	T	2: 36,703,069 (GRCm39)	F12I	probably damaging	Het
Or4k44	A	G	2: 111,368,142 (GRCm39)	V164A	probably benign	Het
Or52j3	T	A	7: 102,836,421 (GRCm39)	F204L	probably benign	Het
Or8b12c	T	A	9: 37,715,243 (GRCm39)	I12N	possibly damaging	Het
Pcx	A	T	19: 4,652,251 (GRCm39)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,682 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,851,200 (GRCm39)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,668,607 (GRCm39)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,615,874 (GRCm39)	M248L	probably benign	Het
Ryr1	T	G	7: 28,782,962 (GRCm39)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,061,727 (GRCm39)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,026,777 (GRCm39)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,468,082 (GRCm39)	V236A	probably benign	Het
Sobp	T	C	10: 42,897,720 (GRCm39)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,850,056 (GRCm39)	R691S	probably benign	Het
Speg	A	G	1: 75,398,595 (GRCm39)	E2014G	probably damaging	Het
Steap4	A	G	5: 8,025,902 (GRCm39)		probably benign	Het
Tas2r144	G	A	6: 42,192,537 (GRCm39)	M92I	probably benign	Het
Tbc1d5	T	C	17: 51,242,560 (GRCm39)	Q179R	probably benign	Het
Tcf25	T	C	8: 124,115,326 (GRCm39)	Y188H	probably benign	Het
Tmem200a	G	A	10: 25,954,518 (GRCm39)		probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,256,409 (GRCm39)	T337A	probably benign	Het
Ttc23	T	C	7: 67,328,743 (GRCm39)	V228A	probably benign	Het
Tulp1	A	T	17: 28,581,645 (GRCm39)		probably benign	Het
Uqcc3	A	G	19: 8,858,117 (GRCm39)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 63,996,994 (GRCm39)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,829,374 (GRCm39)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,991,947 (GRCm39)	V3451L	probably benign	Het
Wdr19	G	A	5: 65,382,033 (GRCm39)	V418I	probably benign	Het
Xirp2	C	T	2: 67,338,383 (GRCm39)	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,980,107 (GRCm39)	V639A	probably benign	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
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
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'- AGGCTGCCCCAGCATAGCTTTTAC -3'
(R):5'- GTTTCTCCGCACGAGTTCCATCAG -3'

Sequencing Primer
(F):5'- ACTTCTTGTTCACAGGTGGC -3'
(R):5'- AATGGTCCTTGGCACAACTG -3'

Posted On

2014-04-13