Mutagenetix > Incidental Mutation

Incidental Mutation 'R1994:Dclre1c'

224065

Institutional Source

Beutler Lab

Gene Symbol

Dclre1c

Ensembl Gene

ENSMUSG00000026648

Gene Name

DNA cross-link repair 1C

Synonyms

9930121L06Rik, Art, Artemis

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R1994 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3425168-3465167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3439022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 61 (R61W)

Ref Sequence

ENSEMBL: ENSMUSP00000110718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061852] [ENSMUST00000100463] [ENSMUST00000102988] [ENSMUST00000115066]

AlphaFold

Q8K4J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061852
AA Change: R191W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: R191W

Domain	Start	End	E-Value	Type
Lactamase_B	10	193	7.78e0	SMART
Pfam:DRMBL	239	345	1.6e-22	PFAM
low complexity region	383	400	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC
low complexity region	593	601	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100463
AA Change: R191W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: R191W

Domain	Start	End	E-Value	Type
Lactamase_B	10	193	7.78e0	SMART
Pfam:DRMBL	239	345	6.5e-23	PFAM
low complexity region	476	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102988
AA Change: R191W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: R191W

Domain	Start	End	E-Value	Type
Lactamase_B	10	193	7.78e0	SMART
Pfam:DRMBL	239	345	8.8e-23	PFAM
low complexity region	383	400	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC
internal_repeat_1	518	534	4.97e-8	PROSPERO
internal_repeat_1	525	541	4.97e-8	PROSPERO
low complexity region	545	559	N/A	INTRINSIC
low complexity region	652	662	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115066
AA Change: R61W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: R61W

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	25	70	1e-19	BLAST
Pfam:DRMBL	109	215	1.1e-22	PFAM
low complexity region	253	270	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
low complexity region	463	471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129657

SMART Domains

Protein: ENSMUSP00000116883
Gene: ENSMUSG00000026648

Domain	Start	End	E-Value	Type
Pfam:DRMBL	1	96	1.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146027

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the SNM1 family of nucleases and is involved in V(D)J recombination and DNA repair. This protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Homozygous knockout mice for this gene exhibit severe combined immunodeficiency with sensitivity to ionizing radiation. Mutations in this gene in humans can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,113,014 (GRCm39)		probably null	Het
Abcc8	T	G	7: 45,806,543 (GRCm39)	R388S	probably benign	Het
Abhd18	C	T	3: 40,889,361 (GRCm39)	R414*	probably null	Het
Acap1	C	T	11: 69,780,324 (GRCm39)	V40I	probably benign	Het
Actn1	C	A	12: 80,251,745 (GRCm39)	G111*	probably null	Het
Adam26b	T	C	8: 43,973,676 (GRCm39)	Q442R	probably benign	Het
Adamts19	T	C	18: 59,105,903 (GRCm39)		probably null	Het
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AI661453	A	G	17: 47,777,959 (GRCm39)		probably benign	Het
Ap4e1	T	C	2: 126,903,467 (GRCm39)	S790P	probably benign	Het
Asmt	A	G	X: 169,109,524 (GRCm39)	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,866,240 (GRCm39)	S287T	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bicd1	A	T	6: 149,415,050 (GRCm39)	T588S	probably benign	Het
Birc6	T	G	17: 74,905,057 (GRCm39)	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Capn3	T	A	2: 120,326,418 (GRCm39)	Y537N	probably damaging	Het
Ccn3	T	A	15: 54,612,750 (GRCm39)	V253E	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Chgb	T	C	2: 132,628,418 (GRCm39)	S48P	possibly damaging	Het
Cidec	T	A	6: 113,405,193 (GRCm39)	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,808,234 (GRCm39)	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,487,360 (GRCm39)	T138M	probably benign	Het
Eef1akmt1	A	C	14: 57,787,911 (GRCm39)	V149G	probably benign	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fbln2	A	G	6: 91,211,283 (GRCm39)	E409G	probably damaging	Het
Fkbp15	G	A	4: 62,222,618 (GRCm39)	P1094S	probably benign	Het
Fpr1	A	G	17: 18,097,879 (GRCm39)	S37P	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Gja6	A	T	X: 159,686,374 (GRCm39)	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,659,388 (GRCm39)	T445A	probably benign	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gspt2	A	G	X: 93,681,025 (GRCm39)	D388G	possibly damaging	Het
Hdc	T	A	2: 126,458,107 (GRCm39)	I72F	probably damaging	Het
Ift70b	A	G	2: 75,768,402 (GRCm39)	L117P	probably damaging	Het
Igf2r	T	C	17: 12,911,625 (GRCm39)	K1905E	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,628,979 (GRCm39)	T161I	probably benign	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,387,696 (GRCm39)	I551F	possibly damaging	Het
Miga2	A	T	2: 30,272,000 (GRCm39)	D25V	probably damaging	Het
Mlc1	T	C	15: 88,858,782 (GRCm39)	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,293 (GRCm39)	M281K	probably benign	Het
Muc5ac	C	A	7: 141,366,889 (GRCm39)	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,584,748 (GRCm39)	S411P	possibly damaging	Het
Ngef	G	A	1: 87,415,626 (GRCm39)	S346L	probably damaging	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or2t6	A	G	14: 14,175,854 (GRCm38)	I76T	probably benign	Het
Or4c112	T	A	2: 88,853,487 (GRCm39)	T287S	probably damaging	Het
Or4f15	T	A	2: 111,814,429 (GRCm39)	M5L	probably benign	Het
Or51aa2	T	C	7: 103,187,566 (GRCm39)	I292V	possibly damaging	Het
Or52m2	C	T	7: 102,263,747 (GRCm39)	V150M	probably damaging	Het
Or56b2	T	C	7: 104,337,690 (GRCm39)	I156T	probably benign	Het
Or6c215	T	C	10: 129,637,530 (GRCm39)	Y288C	probably damaging	Het
Or6c6	T	A	10: 129,186,561 (GRCm39)	I43N	probably damaging	Het
Pecam1	G	T	11: 106,586,763 (GRCm39)	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,621,689 (GRCm39)		probably null	Het
Pop1	A	C	15: 34,530,617 (GRCm39)	Q1005P	probably damaging	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prss33	G	A	17: 24,053,172 (GRCm39)	A223V	probably damaging	Het
Prss53	C	T	7: 127,486,565 (GRCm39)	V354I	probably benign	Het
Rab3gap2	C	T	1: 184,968,221 (GRCm39)	T191I	probably damaging	Het
Rictor	T	C	15: 6,805,637 (GRCm39)	F608L	probably benign	Het
Ryr3	T	A	2: 112,484,837 (GRCm39)	E3884V	probably null	Het
Scaf11	G	A	15: 96,316,721 (GRCm39)	R948*	probably null	Het
Sec61g	A	T	11: 16,456,444 (GRCm39)	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,008,518 (GRCm39)	F116I	possibly damaging	Het
Sipa1l3	T	C	7: 29,099,036 (GRCm39)	D411G	probably benign	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,759,064 (GRCm39)	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Tent4b	C	T	8: 88,973,112 (GRCm39)	T277M	probably damaging	Het
Tmcc3	T	C	10: 94,414,468 (GRCm39)	S57P	possibly damaging	Het
Traf7	A	G	17: 24,729,476 (GRCm39)	V445A	probably damaging	Het
Trib1	A	G	15: 59,521,192 (GRCm39)	S61G	possibly damaging	Het
Trip12	A	T	1: 84,726,893 (GRCm39)	F36I	probably damaging	Het
Tshz3	T	C	7: 36,469,247 (GRCm39)	I412T	probably damaging	Het
Tsku	T	C	7: 98,001,353 (GRCm39)	Y326C	probably damaging	Het
Ttn	T	G	2: 76,712,038 (GRCm39)		probably benign	Het
Ugt1a6a	G	A	1: 88,066,470 (GRCm39)	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,221,878 (GRCm39)	S781C	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,485,027 (GRCm39)	T121A	probably benign	Het
Zfp109	T	C	7: 23,928,743 (GRCm39)	H222R	probably benign	Het
Zfp286	A	G	11: 62,670,646 (GRCm39)	S476P	probably damaging	Het
Zfp605	T	C	5: 110,275,418 (GRCm39)	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,460,620 (GRCm39)	H504R	probably damaging	Het
Zswim2	T	A	2: 83,746,007 (GRCm39)	N477I	possibly damaging	Het

Other mutations in Dclre1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Dclre1c	APN	2	3,434,821 (GRCm39)	nonsense	probably null
IGL02165:Dclre1c	APN	2	3,451,418 (GRCm39)	splice site	probably benign
IGL02955:Dclre1c	APN	2	3,439,089 (GRCm39)	missense	probably damaging	1.00
IGL02961:Dclre1c	APN	2	3,438,070 (GRCm39)	missense	probably damaging	1.00
Chairy	UTSW	2	3,453,900 (GRCm39)	missense	probably damaging	1.00
delimited	UTSW	2	3,425,342 (GRCm39)	missense	probably damaging	1.00
kiwis	UTSW	2	3,437,512 (GRCm39)	missense	probably damaging	1.00
kleiner	UTSW	2	3,425,273 (GRCm39)	nonsense	probably null
pee-wee	UTSW	2	3,438,742 (GRCm39)	missense	probably damaging	1.00
tyrant	UTSW	2	3,434,827 (GRCm39)	missense	probably damaging	0.97
western_woods	UTSW	2	3,454,206 (GRCm39)	missense	possibly damaging	0.68
R0008:Dclre1c	UTSW	2	3,439,032 (GRCm39)	missense	probably damaging	0.99
R0008:Dclre1c	UTSW	2	3,439,032 (GRCm39)	missense	probably damaging	0.99
R0520:Dclre1c	UTSW	2	3,437,512 (GRCm39)	missense	probably damaging	1.00
R1922:Dclre1c	UTSW	2	3,441,819 (GRCm39)	missense	possibly damaging	0.95
R4418:Dclre1c	UTSW	2	3,453,972 (GRCm39)	missense	possibly damaging	0.82
R4420:Dclre1c	UTSW	2	3,434,782 (GRCm39)	critical splice acceptor site	probably null
R4710:Dclre1c	UTSW	2	3,441,898 (GRCm39)	critical splice donor site	probably null
R5789:Dclre1c	UTSW	2	3,438,993 (GRCm39)	missense	probably damaging	1.00
R6113:Dclre1c	UTSW	2	3,453,900 (GRCm39)	missense	probably damaging	1.00
R6148:Dclre1c	UTSW	2	3,438,742 (GRCm39)	missense	probably damaging	1.00
R6519:Dclre1c	UTSW	2	3,430,366 (GRCm39)	missense	probably damaging	1.00
R6964:Dclre1c	UTSW	2	3,454,206 (GRCm39)	missense	possibly damaging	0.68
R7785:Dclre1c	UTSW	2	3,425,273 (GRCm39)	nonsense	probably null
R8111:Dclre1c	UTSW	2	3,448,185 (GRCm39)	missense	probably benign	0.00
R8828:Dclre1c	UTSW	2	3,444,714 (GRCm39)	missense	possibly damaging	0.89
R8926:Dclre1c	UTSW	2	3,434,827 (GRCm39)	missense	probably damaging	0.97
R9080:Dclre1c	UTSW	2	3,458,589 (GRCm39)	missense	probably benign
R9127:Dclre1c	UTSW	2	3,439,125 (GRCm39)	missense
R9387:Dclre1c	UTSW	2	3,425,342 (GRCm39)	missense	probably damaging	1.00
Z1088:Dclre1c	UTSW	2	3,439,117 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGATATGCCTGGGGTGATGAG -3'
(R):5'- TGTGTCTAGGCAAGCTGCTC -3'

Sequencing Primer
(F):5'- CCTGGGGTGATGAGTCTCC -3'
(R):5'- TAGGCAAGCTGCTCCCACATC -3'

Posted On

2014-08-25