Mutagenetix > Incidental Mutation

Incidental Mutation 'R0625:Dcbld1'

57431

Institutional Source

Beutler Lab

Gene Symbol

Dcbld1

Ensembl Gene

ENSMUSG00000019891

Gene Name

discoidin, CUB and LCCL domain containing 1

Synonyms

4631413K11Rik

MMRRC Submission

038814-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52233619-52321378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52312850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 186 (I186S)

Ref Sequence

ENSEMBL: ENSMUSP00000151265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069004] [ENSMUST00000218582]

AlphaFold

Q9D4J3

Predicted Effect

probably benign
Transcript: ENSMUST00000069004
AA Change: I257S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: I257S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
CUB	32	141	6.42e-23	SMART
Pfam:LCCL	147	239	4.5e-19	PFAM
transmembrane domain	248	270	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000101116
Gene: ENSMUSG00000019891
AA Change: I186S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1sfp__	28	69	3e-6	SMART
Pfam:LCCL	76	168	3.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218582
AA Change: I186S

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,408,065	S2P	probably benign	Het
Abca16	A	C	7: 120,435,893	T301P	probably damaging	Het
Acer2	A	G	4: 86,887,162	D121G	possibly damaging	Het
Adgrd1	T	C	5: 129,171,931		probably null	Het
Arhgap11a	T	C	2: 113,841,711	I249V	probably benign	Het
Arhgap22	A	G	14: 33,366,714	E219G	probably benign	Het
C2cd4b	T	A	9: 67,759,751	S10T	probably benign	Het
Cnot6	A	T	11: 49,683,171	I224N	probably damaging	Het
Ctrc	T	C	4: 141,841,518	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,858,589	S14R	unknown	Het
Cyp4f37	T	G	17: 32,634,678	F445L	probably damaging	Het
Dmxl2	T	C	9: 54,382,702	T2510A	probably benign	Het
Dnah3	A	G	7: 120,071,887	I591T	possibly damaging	Het
Dock5	A	T	14: 67,841,163	I204N	probably benign	Het
Dysf	G	A	6: 84,111,987		probably null	Het
Erich5	A	G	15: 34,471,369	E248G	probably damaging	Het
Fam160a1	A	G	3: 85,730,500	V164A	possibly damaging	Het
Foxm1	A	G	6: 128,373,871	S712G	probably damaging	Het
Frmpd1	A	G	4: 45,284,055	T959A	probably benign	Het
Gfra4	C	T	2: 131,040,256	V277I	probably null	Het
Hacd4	T	C	4: 88,435,010	I82V	probably benign	Het
Itih2	C	T	2: 10,123,414	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,166,651	M2410L	probably benign	Het
March11	A	G	15: 26,311,043	I202V	probably damaging	Het
March3	A	G	18: 56,811,830		probably null	Het
Med12l	G	A	3: 59,247,437	E1135K	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mlx	T	C	11: 101,087,782	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,846,427	C473R	unknown	Het
N4bp2l1	T	A	5: 150,576,745	R66*	probably null	Het
Nes	A	G	3: 87,977,172	T913A	possibly damaging	Het
Oas1a	T	C	5: 120,899,259	E235G	probably damaging	Het
Olfr1104	T	A	2: 87,021,620	H308L	probably benign	Het
Olfr477	T	C	7: 107,991,189	S275P	probably damaging	Het
Olfr905	T	C	9: 38,473,208	S154P	possibly damaging	Het
Parn	C	T	16: 13,640,294	V286I	probably benign	Het
Paxip1	G	A	5: 27,765,942	Q470*	probably null	Het
Phc2	C	G	4: 128,723,710	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,305,041	D384V	probably damaging	Het
Plpbp	A	T	8: 27,045,131	N68I	probably damaging	Het
Podxl2	G	A	6: 88,849,955	A123V	possibly damaging	Het
Pole	A	T	5: 110,325,550	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,225,027	E396G	probably damaging	Het
Pramel7	T	A	2: 87,491,008	I228F	probably benign	Het
Prl7d1	A	T	13: 27,710,140	C149S	probably benign	Het
Qtrt1	G	T	9: 21,418,288	M217I	probably benign	Het
Sec24a	T	A	11: 51,729,454	D456V	probably damaging	Het
Shox2	T	G	3: 66,981,544		probably null	Het
Skint2	T	A	4: 112,624,086	S49T	probably damaging	Het
Smarca5	A	G	8: 80,720,686		probably null	Het
Sorcs2	T	A	5: 36,024,572	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,412,102		probably null	Het
Ttc7b	T	A	12: 100,355,046	M24L	probably benign	Het
Ttll3	A	G	6: 113,408,903		probably null	Het
Usp7	C	T	16: 8,704,982	D102N	probably benign	Het

Other mutations in Dcbld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Dcbld1	APN	10	52312849	missense	probably benign
IGL01974:Dcbld1	APN	10	52304681	missense	probably benign	0.00
IGL01997:Dcbld1	APN	10	52317110	missense	probably damaging	0.98
IGL02811:Dcbld1	APN	10	52319973	missense	probably benign
IGL03011:Dcbld1	APN	10	52284148	missense	probably damaging	0.98
IGL03329:Dcbld1	APN	10	52319625	missense	probably damaging	0.99
IGL03048:Dcbld1	UTSW	10	52304626	missense	probably damaging	1.00
R0392:Dcbld1	UTSW	10	52317134	missense	possibly damaging	0.92
R0532:Dcbld1	UTSW	10	52317077	missense	probably benign	0.06
R0561:Dcbld1	UTSW	10	52261936	missense	probably benign	0.02
R0907:Dcbld1	UTSW	10	52261814	missense	possibly damaging	0.83
R1567:Dcbld1	UTSW	10	52319656	missense	probably damaging	1.00
R1791:Dcbld1	UTSW	10	52319476	missense	probably damaging	0.99
R1915:Dcbld1	UTSW	10	52317035	missense	probably damaging	0.98
R1921:Dcbld1	UTSW	10	52319651	missense	possibly damaging	0.94
R2119:Dcbld1	UTSW	10	52319979	missense	probably benign
R2163:Dcbld1	UTSW	10	52286356	missense	probably damaging	1.00
R2520:Dcbld1	UTSW	10	52319545	missense	probably damaging	0.99
R3196:Dcbld1	UTSW	10	52319491	missense	probably damaging	0.99
R3788:Dcbld1	UTSW	10	52319658	missense	probably damaging	1.00
R4797:Dcbld1	UTSW	10	52284127	missense	probably damaging	0.99
R4904:Dcbld1	UTSW	10	52319970	nonsense	probably null
R5177:Dcbld1	UTSW	10	52304634	missense	probably damaging	1.00
R5329:Dcbld1	UTSW	10	52284257	intron	probably benign
R5456:Dcbld1	UTSW	10	52314390	missense	probably damaging	1.00
R6151:Dcbld1	UTSW	10	52304660	missense	probably damaging	1.00
R6267:Dcbld1	UTSW	10	52319480	nonsense	probably null
R6421:Dcbld1	UTSW	10	52286354	missense	probably damaging	1.00
R7031:Dcbld1	UTSW	10	52290889	missense	probably damaging	1.00
R7738:Dcbld1	UTSW	10	52312826	missense	possibly damaging	0.71
R7993:Dcbld1	UTSW	10	52261788	nonsense	probably null
R8728:Dcbld1	UTSW	10	52233833	missense	probably benign	0.02
R8971:Dcbld1	UTSW	10	52319862	missense	probably benign	0.12
R9201:Dcbld1	UTSW	10	52261904	missense	probably benign	0.02
R9217:Dcbld1	UTSW	10	52261932	missense	probably benign	0.00

Predicted Primers

Posted On

2013-07-11