Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Dclre1a'

561259

Institutional Source

Beutler Lab

Gene Symbol

Dclre1a

Ensembl Gene

ENSMUSG00000025077

Gene Name

DNA cross-link repair 1A

Synonyms

2810043H12Rik, SNM1, SMN1a, mSNM1

MMRRC Submission

045341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56517599-56536675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56518067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1004 (Y1004C)

Ref Sequence

ENSEMBL: ENSMUSP00000138290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182276] [ENSMUST00000183143]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000182276
AA Change: Y1004C

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

SMART Domains

Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: Y1004C

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC
low complexity region	211	220	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
Lactamase_B	705	853	7.86e-1	SMART
Pfam:DRMBL	921	1027	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183143

SMART Domains

Protein: ENSMUSP00000138537
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cspg4b	T	A	13: 113,454,475 (GRCm39)	F174I		Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gk5	C	T	9: 96,027,765 (GRCm39)	T200M	probably damaging	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,551,956 (GRCm39)	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Spg7	C	T	8: 123,816,971 (GRCm39)	A554V	probably damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp180	G	T	7: 23,803,938 (GRCm39)	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	probably damaging	Het

Other mutations in Dclre1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Dclre1a	APN	19	56,535,489 (GRCm39)	missense	probably damaging	1.00
IGL02113:Dclre1a	APN	19	56,529,964 (GRCm39)	missense	probably damaging	0.98
IGL02264:Dclre1a	APN	19	56,532,725 (GRCm39)	missense	possibly damaging	0.93
IGL03303:Dclre1a	APN	19	56,535,198 (GRCm39)	missense	possibly damaging	0.85
Gof	UTSW	19	56,531,141 (GRCm39)	missense	probably damaging	1.00
Hoopla	UTSW	19	56,535,067 (GRCm39)	critical splice donor site	probably null
FR4589:Dclre1a	UTSW	19	56,532,555 (GRCm39)	utr 3 prime	probably benign
PIT4377001:Dclre1a	UTSW	19	56,532,837 (GRCm39)	missense	probably benign	0.05
R0081:Dclre1a	UTSW	19	56,531,139 (GRCm39)	missense	probably damaging	1.00
R0355:Dclre1a	UTSW	19	56,535,067 (GRCm39)	critical splice donor site	probably null
R0422:Dclre1a	UTSW	19	56,532,567 (GRCm39)	nonsense	probably null
R0486:Dclre1a	UTSW	19	56,529,922 (GRCm39)	splice site	probably benign
R0619:Dclre1a	UTSW	19	56,533,841 (GRCm39)	missense	probably benign	0.00
R0639:Dclre1a	UTSW	19	56,526,872 (GRCm39)	missense	probably damaging	1.00
R1221:Dclre1a	UTSW	19	56,519,700 (GRCm39)	missense	possibly damaging	0.69
R1352:Dclre1a	UTSW	19	56,533,595 (GRCm39)	missense	probably damaging	1.00
R1824:Dclre1a	UTSW	19	56,535,150 (GRCm39)	splice site	probably null
R1833:Dclre1a	UTSW	19	56,529,932 (GRCm39)	splice site	probably null
R3851:Dclre1a	UTSW	19	56,529,939 (GRCm39)	missense	probably damaging	1.00
R3889:Dclre1a	UTSW	19	56,533,752 (GRCm39)	missense	probably benign	0.00
R4373:Dclre1a	UTSW	19	56,533,874 (GRCm39)	missense	probably benign	0.04
R5277:Dclre1a	UTSW	19	56,533,164 (GRCm39)	missense	possibly damaging	0.78
R5747:Dclre1a	UTSW	19	56,529,964 (GRCm39)	missense	probably damaging	0.98
R5792:Dclre1a	UTSW	19	56,518,022 (GRCm39)	missense	probably damaging	1.00
R5892:Dclre1a	UTSW	19	56,535,572 (GRCm39)	missense	probably benign	0.29
R5993:Dclre1a	UTSW	19	56,531,169 (GRCm39)	missense	probably damaging	1.00
R6368:Dclre1a	UTSW	19	56,535,223 (GRCm39)	missense	probably benign	0.02
R6706:Dclre1a	UTSW	19	56,533,501 (GRCm39)	missense	probably benign	0.11
R6944:Dclre1a	UTSW	19	56,533,451 (GRCm39)	missense	possibly damaging	0.90
R6960:Dclre1a	UTSW	19	56,531,141 (GRCm39)	missense	probably damaging	1.00
R7023:Dclre1a	UTSW	19	56,528,638 (GRCm39)	missense	probably damaging	0.99
R7355:Dclre1a	UTSW	19	56,535,567 (GRCm39)	missense	possibly damaging	0.53
R7413:Dclre1a	UTSW	19	56,531,082 (GRCm39)	missense	probably damaging	1.00
R7577:Dclre1a	UTSW	19	56,517,965 (GRCm39)	missense	probably damaging	1.00
R7840:Dclre1a	UTSW	19	56,519,684 (GRCm39)	missense	probably damaging	1.00
R8270:Dclre1a	UTSW	19	56,533,382 (GRCm39)	missense	possibly damaging	0.61
R8303:Dclre1a	UTSW	19	56,531,121 (GRCm39)	missense	probably damaging	1.00
R8986:Dclre1a	UTSW	19	56,526,826 (GRCm39)	missense
R9101:Dclre1a	UTSW	19	56,532,738 (GRCm39)	missense	possibly damaging	0.46
R9141:Dclre1a	UTSW	19	56,533,542 (GRCm39)	missense	probably damaging	0.98
R9165:Dclre1a	UTSW	19	56,526,801 (GRCm39)	missense	probably damaging	0.97
R9321:Dclre1a	UTSW	19	56,531,100 (GRCm39)	missense	probably damaging	1.00
R9578:Dclre1a	UTSW	19	56,528,734 (GRCm39)	missense	probably damaging	0.99
RF031:Dclre1a	UTSW	19	56,532,564 (GRCm39)	utr 3 prime	probably benign
RF046:Dclre1a	UTSW	19	56,532,564 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGTACGGAACTCAGCAG -3'
(R):5'- AGGTATGCGCATTAAAACGTAG -3'

Sequencing Primer
(F):5'- GACGTCTGTGACAGCATCAGTATC -3'
(R):5'- GGTTTTTAGAAAATAACCTCTTCC -3'

Posted On

2019-06-26