Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Cdip1'

238143

Institutional Source

Beutler Lab

Gene Symbol

Cdip1

Ensembl Gene

ENSMUSG00000004071

Gene Name

cell death inducing Trp53 target 1

Synonyms

CDIP, 2700048O17Rik, 5730403B10Rik

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4583325-4608156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4587927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 12 (S12N)

Ref Sequence

ENSEMBL: ENSMUSP00000120143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004172] [ENSMUST00000004173] [ENSMUST00000117713] [ENSMUST00000118703] [ENSMUST00000118885] [ENSMUST00000120232] [ENSMUST00000121529] [ENSMUST00000147225]

AlphaFold

Q9DB75

Predicted Effect

probably benign
Transcript: ENSMUST00000004172

SMART Domains

Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	235	2e-83	PFAM
transmembrane domain	295	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000004173
AA Change: S22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071
AA Change: S22N

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
low complexity region	77	110	N/A	INTRINSIC
LITAF	137	206	4.1e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117713
AA Change: S22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071
AA Change: S22N

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
low complexity region	81	93	N/A	INTRINSIC
LITAF	120	189	4.1e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118703
AA Change: S22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071
AA Change: S22N

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
low complexity region	77	110	N/A	INTRINSIC
LITAF	137	206	4.1e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118885

SMART Domains

Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	235	2e-83	PFAM
transmembrane domain	295	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120232

SMART Domains

Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	235	2e-83	PFAM
transmembrane domain	295	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121529

SMART Domains

Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	228	6.8e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147225
AA Change: S12N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071
AA Change: S12N

Domain	Start	End	E-Value	Type
low complexity region	41	59	N/A	INTRINSIC
low complexity region	67	100	N/A	INTRINSIC
Pfam:zf-LITAF-like	123	163	3.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152667

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly damaging	Het

Other mutations in Cdip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Cdip1	APN	16	4,586,729 (GRCm39)	missense	probably damaging	0.98
IGL02403:Cdip1	APN	16	4,586,676 (GRCm39)	missense	probably damaging	0.97
R1490:Cdip1	UTSW	16	4,586,775 (GRCm39)	missense	probably damaging	0.98
R5547:Cdip1	UTSW	16	4,587,988 (GRCm39)	missense	probably damaging	0.98
R5669:Cdip1	UTSW	16	4,586,679 (GRCm39)	missense	probably damaging	1.00
R5982:Cdip1	UTSW	16	4,587,946 (GRCm39)	missense	probably damaging	1.00
R7934:Cdip1	UTSW	16	4,586,422 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ACTTGGAATGGAGAGCTGTG -3'
(R):5'- CAGGTAGCTGAGTTTGAGCCTG -3'

Sequencing Primer
(F):5'- AGAGCTGTGACAGGGATCCC -3'
(R):5'- CCAGAGGAAATATGTATGTGTGTG -3'

Posted On

2014-10-02