Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:Dclre1c'

213117

Institutional Source

Beutler Lab

Gene Symbol

Dclre1c

Ensembl Gene

ENSMUSG00000026648

Gene Name

DNA cross-link repair 1C

Synonyms

9930121L06Rik, Art, Artemis

MMRRC Submission

039940-MU

Accession Numbers

Essential gene?

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

Stock #

R1922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3425168-3465167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3441819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 235 (F235L)

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: F235L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054300
Gene: ENSMUSG00000026648
AA Change: F235L

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: F235L

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098031
Gene: ENSMUSG00000026648
AA Change: F235L

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: F235L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100053
Gene: ENSMUSG00000026648
AA Change: F235L

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

possibly damaging
Transcript: ENSMUST00000115066
AA Change: F105L

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110718
Gene: ENSMUSG00000026648
AA Change: F105L

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: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,359,083 (GRCm39)	N574K	probably benign	Het
Adcy9	A	T	16: 4,129,521 (GRCm39)	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Amy1	T	A	3: 113,358,544 (GRCm39)	I163F	probably damaging	Het
Aoc1l2	A	C	6: 48,908,220 (GRCm39)	I407L	probably benign	Het
Armc5	A	G	7: 127,839,677 (GRCm39)	S332G	probably benign	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Chrna1	A	G	2: 73,398,576 (GRCm39)	S288P	probably damaging	Het
Cpe	T	A	8: 65,070,723 (GRCm39)	D174V	probably benign	Het
Ddx20	A	T	3: 105,585,900 (GRCm39)	V815D	probably damaging	Het
Dhx9	T	C	1: 153,336,020 (GRCm39)		probably null	Het
Dmxl2	A	C	9: 54,308,807 (GRCm39)	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,450,603 (GRCm39)	D293A	probably damaging	Het
Eif2a	C	T	3: 58,455,951 (GRCm39)	R317C	probably damaging	Het
Fancc	A	G	13: 63,478,381 (GRCm39)	V318A	possibly damaging	Het
Fes	A	T	7: 80,033,734 (GRCm39)	Y172*	probably null	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Glul	G	A	1: 153,783,070 (GRCm39)	M214I	probably benign	Het
Gm14496	A	G	2: 181,642,797 (GRCm39)	I823V	probably benign	Het
Gm6665	T	C	18: 31,953,318 (GRCm39)	N50S	probably benign	Het
Gm6729	T	C	10: 86,376,782 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,408,350 (GRCm39)	C299S	probably damaging	Het
Hapln2	T	A	3: 87,930,684 (GRCm39)	N196Y	probably benign	Het
Hsd17b12	A	G	2: 93,875,737 (GRCm39)	V196A	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Kansl1	A	T	11: 104,234,466 (GRCm39)	L680Q	probably damaging	Het
Kcna3	T	C	3: 106,945,251 (GRCm39)	S505P	possibly damaging	Het
Klra1	A	C	6: 130,349,828 (GRCm39)	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,559,822 (GRCm39)	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,343,195 (GRCm39)	P1696T	probably damaging	Het
Mecom	T	C	3: 30,011,591 (GRCm39)	D647G	probably damaging	Het
Mn1	A	G	5: 111,566,612 (GRCm39)	D194G	probably damaging	Het
Muc5ac	A	G	7: 141,347,426 (GRCm39)	N407S	probably benign	Het
Mx2	C	T	16: 97,361,551 (GRCm39)	R584C	probably benign	Het
Myo1c	A	G	11: 75,559,055 (GRCm39)	R597G	probably benign	Het
Nav3	T	C	10: 109,541,467 (GRCm39)	D1932G	probably benign	Het
Nwd2	T	A	5: 63,951,585 (GRCm39)	D205E	probably benign	Het
Obi1	T	C	14: 104,716,622 (GRCm39)	K584E	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Osmr	T	C	15: 6,873,848 (GRCm39)	E183G	possibly damaging	Het
Peak1	A	T	9: 56,113,971 (GRCm39)	W627R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 106,105,017 (GRCm39)	L560Q	probably damaging	Het
Prg4	C	T	1: 150,325,750 (GRCm39)	W1217*	probably null	Het
Prkdc	A	G	16: 15,532,130 (GRCm39)	I1465V	probably benign	Het
Pus1	A	G	5: 110,925,505 (GRCm39)	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,206 (GRCm39)	S154P	probably damaging	Het
Rhbdl1	C	T	17: 26,054,513 (GRCm39)	G211S	probably damaging	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Sash1	T	A	10: 8,603,672 (GRCm39)	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,901,577 (GRCm39)	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,293,624 (GRCm39)	V587E	probably benign	Het
Slc38a2	A	G	15: 96,589,043 (GRCm39)	F454L	possibly damaging	Het
Sprn	A	T	7: 139,733,458 (GRCm39)		probably benign	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,468,564 (GRCm39)	E732G	probably damaging	Het
Tnfaip3	A	G	10: 18,879,355 (GRCm39)	F671S	possibly damaging	Het
Tor1aip2	C	A	1: 155,940,540 (GRCm39)	P282Q	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,789 (GRCm39)	F46Y	probably damaging	Het
Ttn	A	G	2: 76,564,494 (GRCm39)	S28548P	probably damaging	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Usp32	A	T	11: 84,897,830 (GRCm39)	C1170*	probably null	Het
Usp54	G	T	14: 20,610,972 (GRCm39)	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,898,296 (GRCm39)	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,523,771 (GRCm39)	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	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
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'- TTTTCCTAGTGACATCCTGGCAG -3'
(R):5'- TCATGGAATACAGGTACGCAG -3'

Sequencing Primer
(F):5'- GGATACTACCACTCACTGAAATAGTC -3'
(R):5'- GAGCTGCATGACTCTAACTAACAGTC -3'

Posted On

2014-07-14