Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Cttn'

534397

Institutional Source

Beutler Lab

Gene Symbol

Cttn

Ensembl Gene

ENSMUSG00000031078

Gene Name

cortactin

Synonyms

1110020L01Rik, Ems1

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143989468-144024743 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 144010234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033407] [ENSMUST00000103079]

AlphaFold

Q60598

PDB Structure

Lysozyme contamination facilitates crystallization of a hetero-trimericCortactin:Arg:Lysozyme complex [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000033407

SMART Domains

Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	83	119	1.3e-22	PFAM
Pfam:HS1_rep	120	156	8.6e-25	PFAM
Pfam:HS1_rep	157	193	3.4e-25	PFAM
Pfam:HS1_rep	194	230	1.9e-23	PFAM
Pfam:HS1_rep	231	267	1.2e-24	PFAM
Pfam:HS1_rep	268	293	2.4e-10	PFAM
coiled coil region	311	364	N/A	INTRINSIC
SH3	454	509	6.84e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103079

SMART Domains

Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	83	118	2.7e-22	PFAM
Pfam:HS1_rep	120	155	2.9e-23	PFAM
Pfam:HS1_rep	157	192	8.2e-24	PFAM
Pfam:HS1_rep	194	229	7.5e-22	PFAM
Pfam:HS1_rep	231	266	6.6e-25	PFAM
Pfam:HS1_rep	268	303	2.3e-22	PFAM
Pfam:HS1_rep	305	332	4.3e-13	PFAM
coiled coil region	348	401	N/A	INTRINSIC
SH3	491	546	6.84e-24	SMART

Meta Mutation Damage Score

0.9511

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit abnormal early zygote development and die prior to the 2-cell stage. Mice homozygous for a different knock-out allele exhibit increased permeability in vascular and lung endothelial cells and impaired neutrophil extravasation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	possibly damaging	Het

Other mutations in Cttn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Cttn	APN	7	144,011,464 (GRCm39)	missense	probably damaging	0.99
IGL01432:Cttn	APN	7	144,015,043 (GRCm39)	missense	probably damaging	0.98
IGL02652:Cttn	APN	7	143,995,468 (GRCm39)	missense	probably benign	0.00
PIT4377001:Cttn	UTSW	7	143,993,833 (GRCm39)	missense	possibly damaging	0.71
R0226:Cttn	UTSW	7	143,995,589 (GRCm39)	splice site	probably benign
R0346:Cttn	UTSW	7	144,006,276 (GRCm39)	splice site	probably benign
R1220:Cttn	UTSW	7	144,017,699 (GRCm39)	missense	probably benign
R3807:Cttn	UTSW	7	143,999,588 (GRCm39)	missense	probably damaging	1.00
R4080:Cttn	UTSW	7	144,011,461 (GRCm39)	missense	probably damaging	1.00
R4578:Cttn	UTSW	7	144,008,453 (GRCm39)	missense	probably damaging	1.00
R5806:Cttn	UTSW	7	144,015,005 (GRCm39)	missense	probably damaging	0.99
R6985:Cttn	UTSW	7	144,006,324 (GRCm39)	nonsense	probably null
R7883:Cttn	UTSW	7	143,999,555 (GRCm39)	missense	probably benign	0.00
R8143:Cttn	UTSW	7	144,014,999 (GRCm39)	nonsense	probably null
R9319:Cttn	UTSW	7	144,017,100 (GRCm39)	missense	probably damaging	0.99
R9663:Cttn	UTSW	7	144,011,461 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGAAGGCAGCTTCCTCTG -3'
(R):5'- TCCGTTCAGTGAGACCATCTC -3'

Sequencing Primer
(F):5'- AAGGCAGCTTCCTCTGGAGTC -3'
(R):5'- TCTCAAAGGCCTAAAGAAACAGTG -3'

Posted On

2018-09-12