Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Dcbld1'

45883

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 #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52109715-52197474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52138032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 99 (Y99H)

Ref Sequence

ENSEMBL: ENSMUSP00000068203 (fasta)

Gene Model

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

AlphaFold

Q9D4J3

Predicted Effect

probably benign
Transcript: ENSMUST00000069004
AA Change: Y99H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: Y99H

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

noncoding transcript
Transcript: ENSMUST00000140921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218278

Predicted Effect

probably benign
Transcript: ENSMUST00000218582

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
Bpifb4	A	G	2: 153,786,742 (GRCm39)	D298G	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Chrna1	A	G	2: 73,396,596 (GRCm39)	V433A	possibly damaging	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Gp1ba	A	T	11: 70,530,416 (GRCm39)		probably benign	Het
Krt24	C	T	11: 99,175,439 (GRCm39)	E199K	probably damaging	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or10q1	A	T	19: 13,726,662 (GRCm39)	Y64F	probably damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	probably damaging	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
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
R3788:Dcbld1	UTSW	10	52,195,754 (GRCm39)	missense	probably damaging	1.00
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'- TCAGGACAGTGGCACAATGACATC -3'
(R):5'- GAGAATCTTCTGAGACACATGGGGC -3'

Sequencing Primer
(F):5'- TGACATCTAAGAATTATCCAGGGAC -3'
(R):5'- CACATGGGGCAGACATATAGTATCTC -3'

Posted On

2013-06-11