Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Cdin1'

677807

Institutional Source

Beutler Lab

Gene Symbol

Cdin1

Ensembl Gene

ENSMUSG00000040282

Gene Name

CDAN1 interacting nuclease 1

Synonyms

BC052040

MMRRC Submission

068696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115412197-115609249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115505265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 179 (S179T)

Ref Sequence

ENSEMBL: ENSMUSP00000126772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110918] [ENSMUST00000166472]

AlphaFold

Q3U4G0

Predicted Effect

probably benign
Transcript: ENSMUST00000110918
AA Change: S179T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: S179T

Domain	Start	End	E-Value	Type
Pfam:TPD	131	270	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166472
AA Change: S179T

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: S179T

Domain	Start	End	E-Value	Type
Pfam:TPD	132	275	2.2e-53	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Bivm	C	T	1: 44,158,439 (GRCm39)		probably benign	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,279,178 (GRCm39)	M236V	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Marchf6	A	T	15: 31,498,850 (GRCm39)	V149E	probably damaging	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or2bd2	T	C	7: 6,443,285 (GRCm39)	C129R	probably damaging	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf13	T	G	3: 57,714,520 (GRCm39)	I193S	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	probably damaging	Het

Other mutations in Cdin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Cdin1	APN	2	115,607,466 (GRCm39)	missense	possibly damaging	0.63
IGL02221:Cdin1	APN	2	115,469,547 (GRCm39)	critical splice donor site	probably null
IGL02486:Cdin1	APN	2	115,607,487 (GRCm39)	missense	possibly damaging	0.90
IGL03273:Cdin1	APN	2	115,462,472 (GRCm39)	missense	probably damaging	1.00
R0350:Cdin1	UTSW	2	115,607,411 (GRCm39)	missense	possibly damaging	0.79
R0499:Cdin1	UTSW	2	115,473,172 (GRCm39)	missense	probably damaging	1.00
R1479:Cdin1	UTSW	2	115,469,494 (GRCm39)	missense	probably benign	0.15
R1829:Cdin1	UTSW	2	115,473,173 (GRCm39)	missense	possibly damaging	0.69
R4736:Cdin1	UTSW	2	115,412,369 (GRCm39)	missense	probably benign	0.03
R4876:Cdin1	UTSW	2	115,500,539 (GRCm39)	missense	probably damaging	1.00
R4913:Cdin1	UTSW	2	115,500,568 (GRCm39)	splice site	probably null
R6786:Cdin1	UTSW	2	115,462,462 (GRCm39)	missense	probably benign	0.00
R6834:Cdin1	UTSW	2	115,505,265 (GRCm39)	missense	probably benign	0.03
R6838:Cdin1	UTSW	2	115,607,471 (GRCm39)	missense	possibly damaging	0.81
R9047:Cdin1	UTSW	2	115,607,504 (GRCm39)	missense	probably benign
R9787:Cdin1	UTSW	2	115,505,236 (GRCm39)	missense	probably damaging	1.00
X0028:Cdin1	UTSW	2	115,461,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGTAATCTGGGTAGAAAGTCATG -3'
(R):5'- GAACGTGCTGTCTATATAGGGGAG -3'

Sequencing Primer
(F):5'- TGGTATTAACTTTTCCCGTTA -3'
(R):5'- CTATATAGGGGAGTGGGTCTAAATC -3'

Posted On

2021-08-02