Mutagenetix > Incidental Mutations

Incidental Mutation 'R1157:Crispld1'

101761

Institutional Source

Beutler Lab

Gene Symbol

Crispld1

Ensembl Gene

ENSMUSG00000025776

Gene Name

cysteine-rich secretory protein LCCL domain containing 1

Synonyms

Cocoacrisp

MMRRC Submission

039230-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1157 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17727045-17766344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17745363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 90 (V90M)

Ref Sequence

ENSEMBL: ENSMUSP00000123800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095075] [ENSMUST00000159958] [ENSMUST00000160305]

AlphaFold

Q8CGD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095075
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: V90M

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

possibly damaging
Transcript: ENSMUST00000159958
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: V90M

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

possibly damaging
Transcript: ENSMUST00000160305
AA Change: V90M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776
AA Change: V90M

Domain	Start	End	E-Value	Type
SCP	60	162	1.26e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189853

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	A	3: 95,683,661	S332I	possibly damaging	Het
Alpl	A	G	4: 137,754,020	V107A	probably damaging	Het
Baz1a	A	T	12: 54,929,564	F442L	probably damaging	Het
Cachd1	T	A	4: 100,974,840	M733K	possibly damaging	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cenpf	A	T	1: 189,658,453	C1061S	probably benign	Het
Ergic1	T	A	17: 26,614,395	L41Q	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Gas2l2	G	A	11: 83,423,328	P386L	probably benign	Het
Gm21726	T	C	13: 90,583,605		noncoding transcript	Het
Gm7257	G	A	9: 36,432,847	C42Y	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Iqsec1	A	G	6: 90,669,384	V771A	possibly damaging	Het
Klhl29	T	C	12: 5,090,650	N664S	possibly damaging	Het
Krit1	T	C	5: 3,832,176	Y659H	probably damaging	Het
Lap3	T	A	5: 45,507,148	D373E	probably damaging	Het
Lrrc7	A	G	3: 158,160,255	I1283T	probably damaging	Het
Lrrk1	T	C	7: 66,262,283	Y1843C	probably benign	Het
Mapre1	T	A	2: 153,758,017	D120E	probably benign	Het
Mgp	A	T	6: 136,873,206	M44K	possibly damaging	Het
Mrps25	A	T	6: 92,183,966	M3K	probably damaging	Het
Myo3a	G	T	2: 22,542,414		probably null	Het
Nedd9	C	T	13: 41,314,503		probably null	Het
Olfr371	G	T	8: 85,231,260	C255F	probably damaging	Het
Olfr677	A	G	7: 105,056,884	I213V	probably benign	Het
Olfr765	T	G	10: 129,046,158	T302P	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pigs	T	C	11: 78,328,994	V65A	possibly damaging	Het
Pip5k1a	G	A	3: 95,078,112	T60I	probably benign	Het
Rp9	A	T	9: 22,458,740	Y44N	probably damaging	Het
Tcea1	T	A	1: 4,889,447		probably null	Het
Trim33	C	T	3: 103,353,830	T1098I	probably damaging	Het
Vmn2r114	T	A	17: 23,310,340	I263F	possibly damaging	Het
Wdr12	A	T	1: 60,078,230	S402R	probably damaging	Het
Zfp619	A	G	7: 39,536,858	S771G	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
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
R4486:Crispld1	UTSW	1	17752878	missense	probably benign	0.01
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

Posted On

2014-01-15