Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Nckipsd'

481013

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

044173-MU

Accession Numbers

Essential gene?

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

Stock #

R5994 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

108685567-108696043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108691176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 366 (Q366R)

Ref Sequence

ENSEMBL: ENSMUSP00000035218 (fasta)

Gene Model

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

AlphaFold

Q9ESJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000035218
AA Change: Q366R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: Q366R

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

silent
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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,239,607 (GRCm39)	S3282P	unknown	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,469,234 (GRCm39)	H270L	probably benign	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
P2rx4	T	A	5: 122,863,142 (GRCm39)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,103,149 (GRCm39)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,295,562 (GRCm39)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	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
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'- AAACTGGAGTTGGCCTACAC -3'
(R):5'- TGACCTAATGGCTGAAGGGTG -3'

Sequencing Primer
(F):5'- CACAGTGTAAATTTTGTGGGACCTC -3'
(R):5'- CTGAAGGGTGATGGTCCAG -3'

Posted On

2017-06-26