Mutagenetix > Incidental Mutations

Incidental Mutation 'R6961:Crispld1'

541736

Institutional Source

Beutler Lab

Gene Symbol

Crispld1

Ensembl Gene

ENSMUSG00000025776

Gene Name

cysteine-rich secretory protein LCCL domain containing 1

Synonyms

Cocoacrisp

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17727045-17766344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17762141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 450 (H450Q)

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: H450Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: H450Q

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: H450Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: H450Q

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

Meta Mutation Damage Score

0.9333

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	G	A	9: 35,908,444	M1I	probably null	Het
Aasdh	A	G	5: 76,876,301	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 105,529,217	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,284,635	F23L	probably damaging	Het
Ccdc144b	T	A	3: 36,050,617	I32F	possibly damaging	Het
Cdh23	G	C	10: 60,650,114	L41V	probably benign	Het
Cep120	C	A	18: 53,703,205	E803*	probably null	Het
Clcn7	C	T	17: 25,157,214	P560S	probably damaging	Het
Cldn12	A	T	5: 5,507,707	V240D	probably damaging	Het
Clec1a	C	T	6: 129,429,983	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Dsc2	A	T	18: 20,038,222	N573K	probably damaging	Het
Fam186a	T	A	15: 99,940,201	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,543,742	F393S	probably damaging	Het
Fut1	A	T	7: 45,619,539	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,413,291	D655G	probably benign	Het
Gm15448	T	C	7: 3,825,125	Y61C	probably damaging	Het
Gm29106	A	T	1: 118,200,398	K607*	probably null	Het
Gm609	T	A	16: 45,444,003	Y64F	probably benign	Het
Hmg20a	T	C	9: 56,488,728	V268A	probably benign	Het
Il2rb	T	A	15: 78,485,824	Y205F	probably damaging	Het
Ints4	A	G	7: 97,541,190	*965W	probably null	Het
Itsn2	T	A	12: 4,673,420	C1118*	probably null	Het
Jakmip1	T	C	5: 37,173,353	L459P	probably damaging	Het
Klhl8	T	C	5: 103,870,569	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,396,178		probably null	Het
Myo3a	A	G	2: 22,245,558	T79A	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Napa	C	T	7: 16,109,109	R53*	probably null	Het
Nudt21	A	C	8: 94,028,880	D133E	probably benign	Het
Olfr1220	T	A	2: 89,097,805	M41L	probably benign	Het
Olfr131	T	A	17: 38,082,205	I258F	probably damaging	Het
Olfr601	A	G	7: 103,358,582	V204A	possibly damaging	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr690	A	T	7: 105,329,706	I162K	probably damaging	Het
Olfr789	T	C	10: 129,487,462	F151L	probably damaging	Het
Pla2g4e	G	T	2: 120,174,370		probably null	Het
Ptbp1	T	C	10: 79,859,277		probably null	Het
Scfd2	A	C	5: 74,519,541	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,629,653	M712V	probably damaging	Het
Smg7	A	T	1: 152,841,583	L919*	probably null	Het
Sspo	T	A	6: 48,463,877	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,649,835	M165K	possibly damaging	Het
Tie1	C	T	4: 118,486,205	V154M	probably damaging	Het
Timm17a	A	G	1: 135,311,078		probably benign	Het
Tlr5	C	T	1: 182,973,511	R127*	probably null	Het
Ttc29	A	C	8: 78,276,916	I254L	possibly damaging	Het
Unc79	T	C	12: 103,112,915	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,268,384	Y584*	probably null	Het
Zbtb24	A	G	10: 41,455,175	E366G	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
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
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'- TGATGCGTTACTTCCCAAATACC -3'
(R):5'- AGGGCTCACTCAAAGGAAAC -3'

Sequencing Primer
(F):5'- CCCCTTTATGTGTGGAATATTATGC -3'
(R):5'- GGAAACACATAGTTCAGTCACTTAGC -3'

Posted On

2018-11-28