Mutagenetix > Incidental Mutations

Incidental Mutation 'R4486:Crispld1'

331598

Institutional Source

Beutler Lab

Gene Symbol

Crispld1

Ensembl Gene

ENSMUSG00000025776

Gene Name

cysteine-rich secretory protein LCCL domain containing 1

Synonyms

Cocoacrisp

MMRRC Submission

041742-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17727045-17766344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17752878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 390 (T390A)

Ref Sequence

ENSEMBL: ENSMUSP00000124095 (fasta)

Gene Model

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

AlphaFold

Q8CGD2

Predicted Effect

probably benign
Transcript: ENSMUST00000095075
AA Change: T390A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: T390A

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 benign
Transcript: ENSMUST00000159958
AA Change: T390A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: T390A

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

Meta Mutation Damage Score

0.1127

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,178,283	V484A	probably damaging	Het
Adam22	A	T	5: 8,180,227		probably benign	Het
Adamts18	G	T	8: 113,713,193	P923T	probably benign	Het
AI314180	A	G	4: 58,820,086		probably benign	Het
Ank3	C	T	10: 70,001,974	T1604I	possibly damaging	Het
Armc10	A	G	5: 21,653,434	Q159R	probably damaging	Het
Arnt2	T	A	7: 84,275,345	T425S	probably benign	Het
B4galt3	A	G	1: 171,271,773	T36A	possibly damaging	Het
Bbx	A	G	16: 50,200,414	V799A	probably damaging	Het
Bud23	T	C	5: 135,063,925		probably null	Het
Cnga2	T	A	X: 72,006,127	F133I	possibly damaging	Het
Cyp4f39	T	A	17: 32,483,454	D308E	probably damaging	Het
Dnah6	A	G	6: 73,038,746	V3584A	probably damaging	Het
Frk	T	C	10: 34,608,381	I450T	probably benign	Het
Grm6	T	C	11: 50,859,989	S660P	probably damaging	Het
Hao2	T	A	3: 98,882,025	I116F	probably damaging	Het
Hyi	G	A	4: 118,362,477	G237D	probably damaging	Het
Jrkl	T	C	9: 13,245,371	N95S	probably benign	Het
Kif1bp	A	G	10: 62,563,027		probably benign	Het
Nanog	T	C	6: 122,712,717		probably null	Het
Ngf	G	A	3: 102,520,699	D255N	probably damaging	Het
Nlrp4e	A	G	7: 23,321,227	I380V	probably benign	Het
Olfr676	T	C	7: 105,035,303	F35S	probably benign	Het
Olfr813	T	C	10: 129,856,698	F60S	probably damaging	Het
Pcdha3	T	C	18: 36,947,351	V382A	probably damaging	Het
Pla2g4c	T	A	7: 13,337,751	N165K	probably benign	Het
Rexo5	T	C	7: 119,825,577	I362T	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Rpusd2	T	C	2: 119,035,224	V134A	probably damaging	Het
Serpina1c	T	A	12: 103,897,000		probably null	Het
Slc6a19	A	T	13: 73,681,717	I606N	probably damaging	Het
Smchd1	T	C	17: 71,407,235	T878A	probably benign	Het
Tas2r143	A	G	6: 42,400,694	M153V	probably benign	Het
Thrb	G	T	14: 17,925,640	M1I	probably null	Het
Trbc2	A	G	6: 41,546,880		probably benign	Het
Trim37	T	A	11: 87,196,825	S587R	probably benign	Het
Ulbp1	T	A	10: 7,447,397	H151L	probably benign	Het
Vmn2r54	A	T	7: 12,632,272	L245*	probably null	Het
Vmn2r78	A	C	7: 86,920,751		probably null	Het
Xlr5b	T	C	X: 73,157,898		probably null	Het
Xrcc4	A	C	13: 89,992,588	S167R	possibly damaging	Het
Zfp994	C	T	17: 22,201,560	C136Y	probably damaging	Het

Other mutations in Crispld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Crispld1	APN	1	17746801	missense	probably benign	0.21
IGL01610:Crispld1	APN	1	17746725	splice site	probably null
IGL01991:Crispld1	APN	1	17753017	missense	probably benign
IGL02004:Crispld1	APN	1	17747520	missense	probably damaging	1.00
IGL02178:Crispld1	APN	1	17762103	splice site	probably benign
IGL02200:Crispld1	APN	1	17750333	unclassified	probably benign
IGL02251:Crispld1	APN	1	17728840	missense	probably benign	0.06
IGL02506:Crispld1	APN	1	17756305	missense	probably damaging	0.99
IGL02883:Crispld1	APN	1	17746789	missense	possibly damaging	0.87
IGL03310:Crispld1	APN	1	17745477	splice site	probably benign
milliliter	UTSW	1	17750801	missense	possibly damaging	0.81
Spoonful	UTSW	1	17762141	missense	probably damaging	1.00
R0068:Crispld1	UTSW	1	17752988	missense	possibly damaging	0.89
R0324:Crispld1	UTSW	1	17749591	missense	probably benign
R0542:Crispld1	UTSW	1	17746768	missense	possibly damaging	0.75
R1117:Crispld1	UTSW	1	17749622	missense	probably benign	0.03
R1157:Crispld1	UTSW	1	17745363	missense	possibly damaging	0.70
R1585:Crispld1	UTSW	1	17750800	missense	possibly damaging	0.68
R1630:Crispld1	UTSW	1	17728798	missense	probably benign
R2081:Crispld1	UTSW	1	17762179	missense	probably damaging	0.99
R2143:Crispld1	UTSW	1	17749636	missense	probably benign
R2472:Crispld1	UTSW	1	17745828	missense	probably null	0.12
R2520:Crispld1	UTSW	1	17750776	missense	probably damaging	1.00
R4476:Crispld1	UTSW	1	17747510	missense	probably damaging	1.00
R4779:Crispld1	UTSW	1	17749607	missense	probably benign
R5508:Crispld1	UTSW	1	17752983	missense	probably damaging	1.00
R5568:Crispld1	UTSW	1	17750271	missense	probably benign	0.01
R6155:Crispld1	UTSW	1	17753017	missense	probably benign
R6252:Crispld1	UTSW	1	17749507	missense	probably benign	0.00
R6361:Crispld1	UTSW	1	17762231	missense	probably damaging	0.99
R6617:Crispld1	UTSW	1	17728662	missense	probably benign	0.02
R6760:Crispld1	UTSW	1	17750801	missense	possibly damaging	0.81
R6961:Crispld1	UTSW	1	17762141	missense	probably damaging	1.00
R7278:Crispld1	UTSW	1	17752878	missense	probably benign	0.01
R7403:Crispld1	UTSW	1	17747596	missense	probably damaging	1.00
R7592:Crispld1	UTSW	1	17728766	missense	possibly damaging	0.64
R7837:Crispld1	UTSW	1	17728730	missense	probably benign	0.42
R8906:Crispld1	UTSW	1	17750771	missense	possibly damaging	0.95
R9331:Crispld1	UTSW	1	17762230	missense	probably damaging	0.99
R9477:Crispld1	UTSW	1	17746732	missense	probably benign	0.44
Z1088:Crispld1	UTSW	1	17764076	missense	probably benign
Z1176:Crispld1	UTSW	1	17728613	start gained	probably benign
Z1176:Crispld1	UTSW	1	17752851	missense	possibly damaging	0.60
Z1177:Crispld1	UTSW	1	17764092	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTTAAACTGGTTCTGTGGAGAAATGAC -3'
(R):5'- GGATTACCTGGGGCAATGAG -3'

Sequencing Primer
(F):5'- CTGGTTCTGTGGAGAAATGACATGAG -3'
(R):5'- TTACCTGGGGCAATGAGAAGCAG -3'

Posted On

2015-07-21