Mutagenetix > Incidental Mutation

Incidental Mutation 'R8828:Dclre1c'

673587

Institutional Source

Beutler Lab

Gene Symbol

Dclre1c

Ensembl Gene

ENSMUSG00000026648

Gene Name

DNA cross-link repair 1C

Synonyms

9930121L06Rik, Art, Artemis

MMRRC Submission

068730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R8828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3425168-3465167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3444714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 268 (N268K)

Ref Sequence

ENSEMBL: ENSMUSP00000100053 (fasta)

Gene Model

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

AlphaFold

Q8K4J0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061852
AA Change: N268K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: N268K

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

possibly damaging
Transcript: ENSMUST00000100463
AA Change: N268K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: N268K

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

possibly damaging
Transcript: ENSMUST00000102988
AA Change: N268K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: N268K

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: N138K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: N138K

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

SMART Domains

Protein: ENSMUSP00000116883
Gene: ENSMUSG00000026648
AA Change: N18K

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

Coding Region Coverage

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,507,455 (GRCm39)	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,792,250 (GRCm39)	I104V	probably benign	Het
Asb2	C	A	12: 103,304,457 (GRCm39)	G16C	probably benign	Het
Bptf	T	C	11: 106,945,836 (GRCm39)	S2468G	probably damaging	Het
Capns1	T	A	7: 29,889,963 (GRCm39)	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,658 (GRCm39)	H182R	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Chd3	C	T	11: 69,247,097 (GRCm39)	V1024I	probably damaging	Het
Chd8	CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG	C	14: 52,448,037 (GRCm39)		probably null	Het
Csmd1	T	C	8: 16,048,794 (GRCm39)	S2303G	probably benign	Het
Ctsl	A	G	13: 64,514,314 (GRCm39)	S255P	probably damaging	Het
Dock10	T	C	1: 80,521,134 (GRCm39)	D1158G	probably damaging	Het
Dock6	A	T	9: 21,757,797 (GRCm39)	D102E	probably benign	Het
Dvl3	T	A	16: 20,344,495 (GRCm39)	D290E	probably damaging	Het
Fam72a	T	A	1: 131,458,461 (GRCm39)	C74*	probably null	Het
Gnrh1	T	A	14: 67,985,334 (GRCm39)	L73Q	probably damaging	Het
Grina	T	A	15: 76,132,497 (GRCm39)	S115T	probably damaging	Het
Grm3	A	T	5: 9,554,725 (GRCm39)	S856T	probably benign	Het
Hars1	C	A	18: 36,899,996 (GRCm39)	R490L	possibly damaging	Het
Ide	T	A	19: 37,292,241 (GRCm39)	K318I		Het
Immt	C	A	6: 71,829,762 (GRCm39)	S156*	probably null	Het
Iqcd	A	G	5: 120,738,232 (GRCm39)	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,298,808 (GRCm39)	V131A	probably damaging	Het
Klk6	C	A	7: 43,478,061 (GRCm39)	N144K		Het
Klk6	T	C	7: 43,478,062 (GRCm39)	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,404,132 (GRCm39)	T752S	probably damaging	Het
Lrguk	A	C	6: 34,080,572 (GRCm39)	Q1269P	unknown	Het
Lrwd1	G	T	5: 136,164,787 (GRCm39)	Q7K	probably benign	Het
Macf1	A	T	4: 123,302,204 (GRCm39)	M766K	probably benign	Het
Myo3a	A	T	2: 22,245,864 (GRCm39)	T4S	probably benign	Het
Neb	T	C	2: 52,084,438 (GRCm39)	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,286,679 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,131,823 (GRCm39)	R344S	probably damaging	Het
Nudt16l2	C	T	9: 105,021,648 (GRCm39)	D133N	probably damaging	Het
Or52p1	A	T	7: 104,267,486 (GRCm39)	Y200F	probably damaging	Het
Or5v1b	A	G	17: 37,841,333 (GRCm39)	N155S	probably damaging	Het
Pcnx1	T	A	12: 82,042,597 (GRCm39)	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,365,768 (GRCm39)	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,799,981 (GRCm39)	K722E	probably damaging	Het
Prim1	A	G	10: 127,859,761 (GRCm39)	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,207,307 (GRCm39)	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,957,854 (GRCm39)	D195E	probably benign	Het
Psmb2	A	G	4: 126,603,330 (GRCm39)	D186G	probably benign	Het
Ptprq	A	G	10: 107,482,513 (GRCm39)	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,065,689 (GRCm39)	T13A	unknown	Het
Scly	C	A	1: 91,244,830 (GRCm39)	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,783,473 (GRCm39)	E661K	probably damaging	Het
Sema4f	G	A	6: 82,894,873 (GRCm39)	L441F	probably benign	Het
Sema4f	A	C	6: 82,894,874 (GRCm39)	Y440*	probably null	Het
Tmem262	C	T	19: 6,130,118 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,236,392 (GRCm39)	T501A	probably damaging	Het
Trio	C	A	15: 27,741,150 (GRCm39)	V2692F	possibly damaging	Het
Ttn	A	T	2: 76,772,774 (GRCm39)	V2453E	unknown	Het
Ttn	G	T	2: 76,541,956 (GRCm39)	R33677S	probably benign	Het
Uaca	T	A	9: 60,778,852 (GRCm39)	S1080T	probably benign	Het
Vav3	T	A	3: 109,555,051 (GRCm39)	C660S	probably benign	Het
Vmn1r229	T	A	17: 21,034,990 (GRCm39)	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,521,179 (GRCm39)	V263A	probably damaging	Het
Yeats2	A	T	16: 19,969,260 (GRCm39)	D17V	probably benign	Het
Zfp658	T	A	7: 43,222,240 (GRCm39)	W172R	probably benign	Het
Zfp804a	A	C	2: 82,089,459 (GRCm39)	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,138,375 (GRCm39)	W37*	probably null	Het
Zmynd15	A	T	11: 70,355,017 (GRCm39)	D468V	probably damaging	Het
Zmynd8	A	T	2: 165,654,466 (GRCm39)	V682E	probably benign	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
R1994:Dclre1c	UTSW	2	3,439,022 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTTCTGTAGGCAAGCTCCC -3'
(R):5'- AACACATCCTCTCCTTGGGC -3'

Sequencing Primer
(F):5'- TAGGCAAGCTCCCAGGCTC -3'
(R):5'- GCTGATGTGTGTGTAAACCAC -3'

Posted On

2021-07-15