Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Dcbld1'

175352

Institutional Source

Beutler Lab

Gene Symbol

Dcbld1

Ensembl Gene

ENSMUSG00000019891

Gene Name

discoidin, CUB and LCCL domain containing 1

Synonyms

4631413K11Rik

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1567 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

52109715-52197474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52195752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 391 (E391G)

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: E391G

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

SMART Domains

Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: E391G

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: E320G

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: E320G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,030,352 (GRCm39)	V155I	probably benign	Het
Actrt2	T	C	4: 154,751,371 (GRCm39)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,643,088 (GRCm39)	H323L	probably benign	Het
Adgrg5	T	A	8: 95,664,326 (GRCm39)	V312E	probably damaging	Het
Anapc1	T	C	2: 128,459,636 (GRCm39)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,233,852 (GRCm39)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,388,719 (GRCm39)	L551Q	probably damaging	Het
Blk	A	G	14: 63,618,178 (GRCm39)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm39)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,261,981 (GRCm39)	R137L	probably benign	Het
Cnn3	A	T	3: 121,243,607 (GRCm39)	K23*	probably null	Het
Cog8	G	A	8: 107,780,740 (GRCm39)	R173*	probably null	Het
Col11a1	G	A	3: 113,932,261 (GRCm39)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,792,215 (GRCm39)	Q243R	probably null	Het
Dchs1	C	A	7: 105,421,068 (GRCm39)	A451S	probably benign	Het
Ddx43	A	G	9: 78,323,991 (GRCm39)	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,228,177 (GRCm39)	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,016,811 (GRCm39)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,588,945 (GRCm39)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,843,754 (GRCm39)	I134F	unknown	Het
Enoph1	G	A	5: 100,208,884 (GRCm39)	G80S	probably benign	Het
Fam76a	A	T	4: 132,645,039 (GRCm39)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm39)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,578,728 (GRCm39)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,596,391 (GRCm39)	I310T	probably damaging	Het
Hk3	T	A	13: 55,154,418 (GRCm39)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,519,608 (GRCm39)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,589,528 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,803,401 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,287,526 (GRCm39)	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,097,201 (GRCm39)	V237E	probably damaging	Het
Mybl1	T	A	1: 9,755,976 (GRCm39)	E191V	probably damaging	Het
Nbas	T	A	12: 13,335,279 (GRCm39)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,466,037 (GRCm39)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,526,257 (GRCm39)	T27M	probably benign	Het
Notch3	G	A	17: 32,377,554 (GRCm39)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,459,224 (GRCm39)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,488,450 (GRCm39)	I251V	probably benign	Het
Or2b28	A	T	13: 21,531,595 (GRCm39)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,586,459 (GRCm39)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,647,528 (GRCm39)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,476,271 (GRCm39)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,080,006 (GRCm39)	T221A	probably benign	Het
Phf2	T	C	13: 48,985,589 (GRCm39)	K64E	unknown	Het
Polr2a	T	C	11: 69,636,857 (GRCm39)	T365A	probably benign	Het
Prkcd	A	G	14: 30,329,405 (GRCm39)	C12R	probably benign	Het
Ptprq	T	C	10: 107,401,748 (GRCm39)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,399,902 (GRCm39)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,187 (GRCm39)	V395A	probably benign	Het
Ryr2	C	A	13: 11,774,563 (GRCm39)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,103,675 (GRCm39)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,309,180 (GRCm39)	*377W	probably null	Het
Sema4a	A	T	3: 88,359,353 (GRCm39)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,404,691 (GRCm39)	S2575P	probably benign	Het
Stk24	T	A	14: 121,545,468 (GRCm39)	I97L	probably benign	Het
Tap2	A	G	17: 34,433,065 (GRCm39)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,908,030 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,727,955 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,246,505 (GRCm39)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,240,258 (GRCm39)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,044,984 (GRCm39)	L274P	probably benign	Het
Zfp974	C	A	7: 27,610,148 (GRCm39)	D526Y	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
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
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'- TGGACCCTGAGATGCTTTAGTCACC -3'
(R):5'- TGCTGGCCTCTGATAGCTTTCAAC -3'

Sequencing Primer
(F):5'- CTGAGATGCTTTAGTCACCAATGG -3'
(R):5'- TCCAGAGGAATGGGAGTGT -3'

Posted On

2014-04-24