Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Cdin1'

537934

Institutional Source

Beutler Lab

Gene Symbol

Cdin1

Ensembl Gene

ENSMUSG00000040282

Gene Name

CDAN1 interacting nuclease 1

Synonyms

BC052040

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115412197-115609249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115607471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 275 (F275L)

Ref Sequence

ENSEMBL: ENSMUSP00000126772 (fasta)

Gene Model

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

AlphaFold

Q3U4G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110918
AA Change: F269L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: F269L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166472
AA Change: F275L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: F275L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Avil	G	A	10: 126,849,431 (GRCm39)	D576N	probably benign	Het
Bbs1	C	T	19: 4,953,880 (GRCm39)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 30,833,929 (GRCm39)	I499V	probably benign	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mapkapk2	T	A	1: 130,985,740 (GRCm39)	K95*	probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,493,738 (GRCm39)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	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
R8893:Cdin1	UTSW	2	115,505,265 (GRCm39)	missense	probably benign	0.25
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'- AGCCGGTTTGCTTATACTCAC -3'
(R):5'- ATTCACATCACCCAGGGATG -3'

Sequencing Primer
(F):5'- GCCGGTTTGCTTATACTCACTTAAAC -3'
(R):5'- CAGAAACTCCTGATATGTTTGTCTAG -3'

Posted On

2018-10-18