Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Nckipsd'

457194

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

044092-MU

Accession Numbers

Essential gene?

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

Stock #

R5891 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

108685567-108696043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108685808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 42 (S42R)

Ref Sequence

ENSEMBL: ENSMUSP00000035218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000085018] [ENSMUST00000193560] [ENSMUST00000194819] [ENSMUST00000195323]

AlphaFold

Q9ESJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035218
AA Change: S42R

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

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: S42R

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: ENSMUST00000085018

SMART Domains

Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599

Domain	Start	End	E-Value	Type
Pfam:IPK	225	440	2.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192678

Predicted Effect

probably benign
Transcript: ENSMUST00000193560

SMART Domains

Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599

Domain	Start	End	E-Value	Type
Pfam:IPK	179	394	1.6e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194413

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194819
AA Change: S42R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598
AA Change: S42R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195323
AA Change: S42R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598
AA Change: S42R

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

Meta Mutation Damage Score

0.1408

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,589,623 (GRCm39)	R387L	possibly damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,288,456 (GRCm39)	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,020,571 (GRCm39)	C233*	probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rab6a	T	A	7: 100,288,454 (GRCm39)		probably null	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,614,034 (GRCm39)		probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	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
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
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'- TGAAGGAACTGGAGACTCCCAC -3'
(R):5'- GGTCAGAGTCTCAACCTCCTTG -3'

Sequencing Primer
(F):5'- AATACTGGAGCCGACTCGCTC -3'
(R):5'- TTGTCTGGTAGAAGTCCCGAAGAATC -3'

Posted On

2017-02-15