Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Dclre1c'

48442

Institutional Source

Beutler Lab

Gene Symbol

Dclre1c

Ensembl Gene

ENSMUSG00000026648

Gene Name

DNA cross-link repair 1C

Synonyms

9930121L06Rik, Art, Artemis

MMRRC Submission

038713-MU

Accession Numbers

Essential gene?

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

Stock #

R0520 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

3425168-3465167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3437512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 115 (H115R)

Ref Sequence

ENSEMBL: ENSMUSP00000100053 (fasta)

Gene Model

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

AlphaFold

Q8K4J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061852
AA Change: H115R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: H115R

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: H115R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: H115R

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: H115R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: H115R

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

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648

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

Meta Mutation Damage Score

0.9678

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Ddx20	T	C	3: 105,594,692 (GRCm39)	T18A	probably benign	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
H2-K2	A	T	17: 34,216,390 (GRCm39)	V272E	probably damaging	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Inpp5k	C	A	11: 75,530,356 (GRCm39)	Y265*	probably null	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Osgin1	A	G	8: 120,169,247 (GRCm39)	H48R	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
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'- TACGGGAGTAGACAAGGGTTCCAC -3'
(R):5'- AAGTAATGCCACCTTTCCCCATGAG -3'

Sequencing Primer
(F):5'- GAGTAGACAAGGGTTCCACTTTCTC -3'
(R):5'- ACTCAGATCATTGCATTCCAGGG -3'

Posted On

2013-06-12