Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:Crispld1'

229454

Institutional Source

Beutler Lab

Gene Symbol

Crispld1

Ensembl Gene

ENSMUSG00000025776

Gene Name

cysteine-rich secretory protein LCCL domain containing 1

Synonyms

Cocoacrisp

MMRRC Submission

040086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17797269-17836568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17832403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 463 (V463D)

Ref Sequence

ENSEMBL: ENSMUSP00000124095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095075] [ENSMUST00000159958]

AlphaFold

Q8CGD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095075
AA Change: V463D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: V463D

Domain	Start	End	E-Value	Type
SCP	60	214	1.63e-41	SMART
LCCL	291	375	1.6e-52	SMART
LCCL	392	483	1.55e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159958
AA Change: V463D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: V463D

Domain	Start	End	E-Value	Type
SCP	60	214	1.63e-41	SMART
LCCL	291	375	1.6e-52	SMART
LCCL	392	483	1.55e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189853

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
C2cd4b	G	T	9: 67,667,859 (GRCm39)	R285L	probably damaging	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hpgd	C	A	8: 56,760,677 (GRCm39)	Q125K	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Pabpn1	A	G	14: 55,133,115 (GRCm39)	K38E	probably damaging	Het
Padi3	A	T	4: 140,526,290 (GRCm39)	L141Q	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Veph1	T	C	3: 65,968,523 (GRCm39)	Y740C	probably damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	Het

Other mutations in Crispld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Crispld1	APN	1	17,817,025 (GRCm39)	missense	probably benign	0.21
IGL01610:Crispld1	APN	1	17,816,949 (GRCm39)	splice site	probably null
IGL01991:Crispld1	APN	1	17,823,241 (GRCm39)	missense	probably benign
IGL02004:Crispld1	APN	1	17,817,744 (GRCm39)	missense	probably damaging	1.00
IGL02178:Crispld1	APN	1	17,832,327 (GRCm39)	splice site	probably benign
IGL02200:Crispld1	APN	1	17,820,557 (GRCm39)	unclassified	probably benign
IGL02251:Crispld1	APN	1	17,799,064 (GRCm39)	missense	probably benign	0.06
IGL02506:Crispld1	APN	1	17,826,529 (GRCm39)	missense	probably damaging	0.99
IGL02883:Crispld1	APN	1	17,817,013 (GRCm39)	missense	possibly damaging	0.87
IGL03310:Crispld1	APN	1	17,815,701 (GRCm39)	splice site	probably benign
milliliter	UTSW	1	17,821,025 (GRCm39)	missense	possibly damaging	0.81
Spoonful	UTSW	1	17,832,365 (GRCm39)	missense	probably damaging	1.00
R0068:Crispld1	UTSW	1	17,823,212 (GRCm39)	missense	possibly damaging	0.89
R0324:Crispld1	UTSW	1	17,819,815 (GRCm39)	missense	probably benign
R0542:Crispld1	UTSW	1	17,816,992 (GRCm39)	missense	possibly damaging	0.75
R1117:Crispld1	UTSW	1	17,819,846 (GRCm39)	missense	probably benign	0.03
R1157:Crispld1	UTSW	1	17,815,587 (GRCm39)	missense	possibly damaging	0.70
R1585:Crispld1	UTSW	1	17,821,024 (GRCm39)	missense	possibly damaging	0.68
R1630:Crispld1	UTSW	1	17,799,022 (GRCm39)	missense	probably benign
R2143:Crispld1	UTSW	1	17,819,860 (GRCm39)	missense	probably benign
R2472:Crispld1	UTSW	1	17,816,052 (GRCm39)	missense	probably null	0.12
R2520:Crispld1	UTSW	1	17,821,000 (GRCm39)	missense	probably damaging	1.00
R4476:Crispld1	UTSW	1	17,817,734 (GRCm39)	missense	probably damaging	1.00
R4486:Crispld1	UTSW	1	17,823,102 (GRCm39)	missense	probably benign	0.01
R4779:Crispld1	UTSW	1	17,819,831 (GRCm39)	missense	probably benign
R5508:Crispld1	UTSW	1	17,823,207 (GRCm39)	missense	probably damaging	1.00
R5568:Crispld1	UTSW	1	17,820,495 (GRCm39)	missense	probably benign	0.01
R6155:Crispld1	UTSW	1	17,823,241 (GRCm39)	missense	probably benign
R6252:Crispld1	UTSW	1	17,819,731 (GRCm39)	missense	probably benign	0.00
R6361:Crispld1	UTSW	1	17,832,455 (GRCm39)	missense	probably damaging	0.99
R6617:Crispld1	UTSW	1	17,798,886 (GRCm39)	missense	probably benign	0.02
R6760:Crispld1	UTSW	1	17,821,025 (GRCm39)	missense	possibly damaging	0.81
R6961:Crispld1	UTSW	1	17,832,365 (GRCm39)	missense	probably damaging	1.00
R7278:Crispld1	UTSW	1	17,823,102 (GRCm39)	missense	probably benign	0.01
R7403:Crispld1	UTSW	1	17,817,820 (GRCm39)	missense	probably damaging	1.00
R7592:Crispld1	UTSW	1	17,798,990 (GRCm39)	missense	possibly damaging	0.64
R7837:Crispld1	UTSW	1	17,798,954 (GRCm39)	missense	probably benign	0.42
R8906:Crispld1	UTSW	1	17,820,995 (GRCm39)	missense	possibly damaging	0.95
R9331:Crispld1	UTSW	1	17,832,454 (GRCm39)	missense	probably damaging	0.99
R9477:Crispld1	UTSW	1	17,816,956 (GRCm39)	missense	probably benign	0.44
Z1088:Crispld1	UTSW	1	17,834,300 (GRCm39)	missense	probably benign
Z1176:Crispld1	UTSW	1	17,823,075 (GRCm39)	missense	possibly damaging	0.60
Z1176:Crispld1	UTSW	1	17,798,837 (GRCm39)	start gained	probably benign
Z1177:Crispld1	UTSW	1	17,834,316 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACAGCTGCTCACTGGCTAC -3'
(R):5'- ATCTGGTACTAGAGCTCCTCTC -3'

Sequencing Primer
(F):5'- GCTACACTATAGAGCAGAGTCTGTC -3'
(R):5'- ATGCCAGGGCTCACTCAAAGG -3'

Posted On

2014-09-17