Mutagenetix > Incidental Mutation

Incidental Mutation 'R5547:Cdip1'

436364

Institutional Source

Beutler Lab

Gene Symbol

Cdip1

Ensembl Gene

ENSMUSG00000004071

Gene Name

cell death inducing Trp53 target 1

Synonyms

CDIP, 2700048O17Rik, 5730403B10Rik

MMRRC Submission

043105-MU

Accession Numbers

Essential gene?

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

Stock #

R5547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4583325-4608156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4587988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000113889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004172] [ENSMUST00000004173] [ENSMUST00000117713] [ENSMUST00000118703] [ENSMUST00000118885] [ENSMUST00000120232] [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 damaging
Transcript: ENSMUST00000004173
AA Change: S2P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071
AA Change: S2P

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 damaging
Transcript: ENSMUST00000117713
AA Change: S2P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071
AA Change: S2P

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 damaging
Transcript: ENSMUST00000118703
AA Change: S2P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071
AA Change: S2P

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

noncoding transcript
Transcript: ENSMUST00000140187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152667

Predicted Effect

probably benign
Transcript: ENSMUST00000147225

SMART Domains

Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,661,356 (GRCm39)	S492P	probably damaging	Het
Arfgef1	A	T	1: 10,231,201 (GRCm39)	D1133E	probably damaging	Het
Avpi1	T	C	19: 42,113,382 (GRCm39)	K25R	probably damaging	Het
Bank1	T	C	3: 135,772,110 (GRCm39)	S708G	probably damaging	Het
C1qtnf2	A	G	11: 43,381,794 (GRCm39)	E202G	probably damaging	Het
C6	T	A	15: 4,837,970 (GRCm39)	V860E	probably benign	Het
Cbr1	T	A	16: 93,406,698 (GRCm39)	V138E	probably damaging	Het
Cep126	T	C	9: 8,100,428 (GRCm39)	N702S	probably damaging	Het
Chek1	T	C	9: 36,623,400 (GRCm39)	I381V	probably benign	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cryz	C	T	3: 154,317,194 (GRCm39)	R138*	probably null	Het
Ctsll3	T	A	13: 60,948,551 (GRCm39)	M103L	probably benign	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Daxx	CGATGATGATGA	CGA	17: 34,131,633 (GRCm39)		probably benign	Het
Dsg1a	T	G	18: 20,469,097 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Flt1	T	A	5: 147,591,948 (GRCm39)	S505C	probably damaging	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
H2-T15	G	A	17: 36,368,796 (GRCm39)	H95Y	possibly damaging	Het
Hmcn1	A	G	1: 150,613,257 (GRCm39)	V1390A	possibly damaging	Het
Ifi44l	C	T	3: 151,467,142 (GRCm39)	V63I	unknown	Het
Klhl3	C	T	13: 58,250,243 (GRCm39)		probably null	Het
Lekr1	T	A	3: 65,576,601 (GRCm39)		probably null	Het
Lhx5	A	G	5: 120,572,675 (GRCm39)	Q98R	probably benign	Het
Nuggc	A	G	14: 65,879,330 (GRCm39)	K681E	possibly damaging	Het
Numa1	G	T	7: 101,663,137 (GRCm39)	A735S	probably damaging	Het
Oog3	A	T	4: 143,884,598 (GRCm39)	L446Q	probably benign	Het
Or5ac19	G	A	16: 59,089,479 (GRCm39)	L184F	probably benign	Het
Otogl	C	T	10: 107,617,909 (GRCm39)	E1735K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,488 (GRCm39)	D119G	probably benign	Het
Pgpep1	T	C	8: 71,105,069 (GRCm39)	K64E	probably benign	Het
Prr19	A	C	7: 25,003,388 (GRCm39)	D334A	probably damaging	Het
Ptprh	G	T	7: 4,557,221 (GRCm39)	S691*	probably null	Het
Recql4	G	A	15: 76,589,994 (GRCm39)	R684*	probably null	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rnf40	T	C	7: 127,188,302 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Tbc1d1	A	G	5: 64,481,887 (GRCm39)	D696G	possibly damaging	Het
Tdo2	T	C	3: 81,866,247 (GRCm39)	R339G	probably damaging	Het
Tmem245	C	T	4: 56,910,156 (GRCm39)		probably null	Het
Trim24	A	G	6: 37,942,485 (GRCm39)	E965G	probably damaging	Het
Trmt112	T	C	19: 6,888,156 (GRCm39)	S103P	probably damaging	Het
Trpv6	A	T	6: 41,613,088 (GRCm39)	V26D	possibly damaging	Het
Zfp850	A	G	7: 27,688,844 (GRCm39)	C455R	probably damaging	Het
Zfp946	T	C	17: 22,673,873 (GRCm39)	I209T	probably benign	Het
Zfp957	T	C	14: 79,451,406 (GRCm39)	N131S	probably benign	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
R2191:Cdip1	UTSW	16	4,587,927 (GRCm39)	missense	probably benign
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'- TGAGGCTCCCTGAGAGGAG -3'

Posted On

2016-10-24