Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Dcbld1'

272390

Institutional Source

Beutler Lab

Gene Symbol

Dcbld1

Ensembl Gene

ENSMUSG00000019891

Gene Name

discoidin, CUB and LCCL domain containing 1

Synonyms

4631413K11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3788 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

52109715-52197474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52195754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 392 (Y392N)

Ref Sequence

ENSEMBL: ENSMUSP00000068203 (fasta)

Gene Model

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

AlphaFold

Q9D4J3

Predicted Effect

probably damaging
Transcript: ENSMUST00000069004
AA Change: Y392N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: Y392N

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: Y321N

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 damaging
Transcript: ENSMUST00000218582
AA Change: Y321N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.7550

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Clnk	A	G	5: 38,872,341 (GRCm39)	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Cyth3	A	G	5: 143,622,298 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Ndufs2	T	C	1: 171,062,889 (GRCm39)	D410G	possibly damaging	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Osbp	A	T	19: 11,956,285 (GRCm39)	Y409F	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	probably benign	Het

Other mutations in Dcbld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Dcbld1	APN	10	52,188,945 (GRCm39)	missense	probably benign
IGL01974:Dcbld1	APN	10	52,180,777 (GRCm39)	missense	probably benign	0.00
IGL01997:Dcbld1	APN	10	52,193,206 (GRCm39)	missense	probably damaging	0.98
IGL02811:Dcbld1	APN	10	52,196,069 (GRCm39)	missense	probably benign
IGL03011:Dcbld1	APN	10	52,160,244 (GRCm39)	missense	probably damaging	0.98
IGL03329:Dcbld1	APN	10	52,195,721 (GRCm39)	missense	probably damaging	0.99
IGL03048:Dcbld1	UTSW	10	52,180,722 (GRCm39)	missense	probably damaging	1.00
R0392:Dcbld1	UTSW	10	52,193,230 (GRCm39)	missense	possibly damaging	0.92
R0532:Dcbld1	UTSW	10	52,193,173 (GRCm39)	missense	probably benign	0.06
R0561:Dcbld1	UTSW	10	52,138,032 (GRCm39)	missense	probably benign	0.02
R0625:Dcbld1	UTSW	10	52,188,946 (GRCm39)	missense	probably benign	0.38
R0907:Dcbld1	UTSW	10	52,137,910 (GRCm39)	missense	possibly damaging	0.83
R1567:Dcbld1	UTSW	10	52,195,752 (GRCm39)	missense	probably damaging	1.00
R1791:Dcbld1	UTSW	10	52,195,572 (GRCm39)	missense	probably damaging	0.99
R1915:Dcbld1	UTSW	10	52,193,131 (GRCm39)	missense	probably damaging	0.98
R1921:Dcbld1	UTSW	10	52,195,747 (GRCm39)	missense	possibly damaging	0.94
R2119:Dcbld1	UTSW	10	52,196,075 (GRCm39)	missense	probably benign
R2163:Dcbld1	UTSW	10	52,162,452 (GRCm39)	missense	probably damaging	1.00
R2520:Dcbld1	UTSW	10	52,195,641 (GRCm39)	missense	probably damaging	0.99
R3196:Dcbld1	UTSW	10	52,195,587 (GRCm39)	missense	probably damaging	0.99
R4797:Dcbld1	UTSW	10	52,160,223 (GRCm39)	missense	probably damaging	0.99
R4904:Dcbld1	UTSW	10	52,196,066 (GRCm39)	nonsense	probably null
R5177:Dcbld1	UTSW	10	52,180,730 (GRCm39)	missense	probably damaging	1.00
R5329:Dcbld1	UTSW	10	52,160,353 (GRCm39)	intron	probably benign
R5456:Dcbld1	UTSW	10	52,190,486 (GRCm39)	missense	probably damaging	1.00
R6151:Dcbld1	UTSW	10	52,180,756 (GRCm39)	missense	probably damaging	1.00
R6267:Dcbld1	UTSW	10	52,195,576 (GRCm39)	nonsense	probably null
R6421:Dcbld1	UTSW	10	52,162,450 (GRCm39)	missense	probably damaging	1.00
R7031:Dcbld1	UTSW	10	52,166,985 (GRCm39)	missense	probably damaging	1.00
R7738:Dcbld1	UTSW	10	52,188,922 (GRCm39)	missense	possibly damaging	0.71
R7993:Dcbld1	UTSW	10	52,137,884 (GRCm39)	nonsense	probably null
R8728:Dcbld1	UTSW	10	52,109,929 (GRCm39)	missense	probably benign	0.02
R8971:Dcbld1	UTSW	10	52,195,958 (GRCm39)	missense	probably benign	0.12
R9201:Dcbld1	UTSW	10	52,138,000 (GRCm39)	missense	probably benign	0.02
R9217:Dcbld1	UTSW	10	52,138,028 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTCATGATTGGCACAG -3'
(R):5'- GCTGTCCAAGAAGCTGCTAG -3'

Sequencing Primer
(F):5'- CTCATGATTGGCACAGGCACAG -3'
(R):5'- GCAGCAGGCTTGTCATAGC -3'

Posted On

2015-03-25