Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Dclre1c'

693299

Institutional Source

Beutler Lab

Gene Symbol

Dclre1c

Ensembl Gene

ENSMUSG00000026648

Gene Name

DNA cross-link repair 1C

Synonyms

9930121L06Rik, Art, Artemis

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

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

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3425168-3465167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3439125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 225 (V225A)

Ref Sequence

ENSEMBL: ENSMUSP00000100053 (fasta)

Gene Model

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

AlphaFold

Q8K4J0

Predicted Effect

probably benign
Transcript: ENSMUST00000061852
AA Change: V225A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: V225A

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 benign
Transcript: ENSMUST00000100463
AA Change: V225A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: V225A

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

SMART Domains

Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: V225A

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 benign
Transcript: ENSMUST00000115066
AA Change: V95A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: V95A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	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
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
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'- TTCTGAATGTCACAGAGGAAACAGG -3'
(R):5'- GAAGCCTGTTCTGCCCTTTG -3'

Sequencing Primer
(F):5'- GAAACAGGTTATGTGCGTTTCTTCAC -3'
(R):5'- CCTTTGTGGGCTGTGACATCC -3'

Posted On

2022-01-20