Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03112:Cend1'

419233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cend1

Ensembl Gene

ENSMUSG00000060240

Gene Name

cell cycle exit and neuronal differentiation 1

Synonyms

BM88, 1500001H12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL03112

Quality Score

Status

Chromosome

Chromosomal Location

141006359-141009404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141007640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 60 (T60M)

Ref Sequence

ENSEMBL: ENSMUSP00000131085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000084436] [ENSMUST00000106006] [ENSMUST00000106007] [ENSMUST00000124266] [ENSMUST00000124444] [ENSMUST00000164387] [ENSMUST00000137488] [ENSMUST00000174095] [ENSMUST00000172654] [ENSMUST00000136354] [ENSMUST00000184518] [ENSMUST00000201127] [ENSMUST00000138865] [ENSMUST00000201710] [ENSMUST00000202840] [ENSMUST00000201822]

AlphaFold

Q9JKC6

Predicted Effect

probably benign
Transcript: ENSMUST00000019226

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	8.1e-26	PFAM
Pfam:Mito_carr	99	217	8.6e-19	PFAM
Pfam:Mito_carr	221	310	7.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084436
AA Change: T60M

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081476
Gene: ENSMUSG00000060240
AA Change: T60M

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106006

SMART Domains

Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	2.8e-26	PFAM
Pfam:Mito_carr	99	137	5.6e-8	PFAM
Pfam:Mito_carr	134	216	2.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106007

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.7e-26	PFAM
Pfam:Mito_carr	99	217	2.3e-18	PFAM
Pfam:Mito_carr	221	311	5.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124266

SMART Domains

Protein: ENSMUSP00000122177
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	2.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124444
AA Change: T60M

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118591
Gene: ENSMUSG00000060240
AA Change: T60M

Domain	Start	End	E-Value	Type
Pfam:CEND1	1	149	1.3e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132635

Predicted Effect

probably benign
Transcript: ENSMUST00000164387
AA Change: T60M

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131085
Gene: ENSMUSG00000060240
AA Change: T60M

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137488
AA Change: T60M

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123334
Gene: ENSMUSG00000060240
AA Change: T60M

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156002

Predicted Effect

probably benign
Transcript: ENSMUST00000174095

Predicted Effect

probably benign
Transcript: ENSMUST00000172654

SMART Domains

Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	54	6.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136354

SMART Domains

Protein: ENSMUSP00000118948
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.2e-25	PFAM
Pfam:Mito_carr	99	206	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184518

SMART Domains

Protein: ENSMUSP00000138924
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201127

Predicted Effect

probably benign
Transcript: ENSMUST00000153190

Predicted Effect

probably benign
Transcript: ENSMUST00000138865

SMART Domains

Protein: ENSMUSP00000120721
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.4e-25	PFAM
Pfam:Mito_carr	99	214	1.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201558

Predicted Effect

probably benign
Transcript: ENSMUST00000201710

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.7e-26	PFAM
Pfam:Mito_carr	99	217	2.3e-18	PFAM
Pfam:Mito_carr	221	311	5.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202840

SMART Domains

Protein: ENSMUSP00000144384
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	85	5.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201822

SMART Domains

Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	70	1.2e-18	PFAM

Coding Region Coverage

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 a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display impaired cerebellar development with defects in granule cell proliferation and migration and purkinje cell arborization. These defects result in a thin cerebellar molecular layer and impaired coordination in adults. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	C	8: 43,974,549 (GRCm39)	N151S	probably benign	Het
Adgre1	G	A	17: 57,755,029 (GRCm39)		probably null	Het
Apol11a	T	A	15: 77,401,509 (GRCm39)	L332Q	probably damaging	Het
B430306N03Rik	C	T	17: 48,623,834 (GRCm39)	S45L	probably benign	Het
Col6a3	C	A	1: 90,739,242 (GRCm39)	E329*	probably null	Het
Col9a3	A	G	2: 180,249,435 (GRCm39)	R266G	possibly damaging	Het
Defb48	C	T	14: 63,221,854 (GRCm39)		probably benign	Het
Eps8l2	T	G	7: 140,941,649 (GRCm39)	L640R	probably damaging	Het
Exoc2	T	A	13: 31,090,570 (GRCm39)		probably benign	Het
Fam149a	C	T	8: 45,801,580 (GRCm39)	V514M	possibly damaging	Het
Fbxo25	A	T	8: 13,971,034 (GRCm39)	D74V	probably benign	Het
Gm11733	A	G	11: 117,377,966 (GRCm39)	*126W	probably null	Het
Grm8	C	T	6: 27,363,262 (GRCm39)	C751Y	probably damaging	Het
Kctd16	A	T	18: 40,391,853 (GRCm39)	D147V	probably benign	Het
Lclat1	A	T	17: 73,546,742 (GRCm39)	T220S	probably damaging	Het
Lgi1	T	A	19: 38,272,478 (GRCm39)	H116Q	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Lsm4	T	A	8: 71,130,656 (GRCm39)	I60N	probably damaging	Het
Morn1	T	A	4: 155,177,601 (GRCm39)	Y178N	probably damaging	Het
Mybl2	A	G	2: 162,904,456 (GRCm39)	E89G	probably damaging	Het
Myo18b	T	C	5: 113,021,856 (GRCm39)	E512G	probably benign	Het
Myrfl	A	T	10: 116,639,311 (GRCm39)	S583T	probably benign	Het
Nek6	A	G	2: 38,450,914 (GRCm39)	I106V	probably damaging	Het
Oas1a	A	T	5: 121,036,412 (GRCm39)	D338E	possibly damaging	Het
Or10ag52	T	A	2: 87,043,944 (GRCm39)	I236N	probably damaging	Het
Or4a76	G	A	2: 89,460,678 (GRCm39)	T188I	probably benign	Het
Or6c1	A	G	10: 129,517,792 (GRCm39)	V272A	probably benign	Het
Pitrm1	C	A	13: 6,615,044 (GRCm39)	Q508K	probably benign	Het
S100b	A	G	10: 76,095,808 (GRCm39)	D62G	probably damaging	Het
Sesn3	A	G	9: 14,221,557 (GRCm39)	H119R	probably damaging	Het
Sez6l	T	A	5: 112,621,333 (GRCm39)	E247V	probably damaging	Het
Shoc1	G	T	4: 59,049,355 (GRCm39)	Q1069K	probably benign	Het
Shq1	C	A	6: 100,550,574 (GRCm39)	E455*	probably null	Het
Slc9b1	T	A	3: 135,103,433 (GRCm39)	M521K	probably damaging	Het
Supt16	A	G	14: 52,413,855 (GRCm39)	F543L	probably damaging	Het
Tcf25	T	C	8: 124,109,258 (GRCm39)		probably benign	Het
Usp48	C	A	4: 137,335,375 (GRCm39)	Q183K	probably damaging	Het
Vmn1r178	G	A	7: 23,593,086 (GRCm39)	G45S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,368 (GRCm39)	Y30*	probably null	Het

Other mutations in Cend1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0367:Cend1	UTSW	7	141,007,808 (GRCm39)	missense	probably damaging	0.97
R7105:Cend1	UTSW	7	141,007,565 (GRCm39)	missense	probably benign	0.04
R7912:Cend1	UTSW	7	141,007,544 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02