Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Crispld1'

574311

Institutional Source

Beutler Lab

Gene Symbol

Crispld1

Ensembl Gene

ENSMUSG00000025776

Gene Name

cysteine-rich secretory protein LCCL domain containing 1

Synonyms

Cocoacrisp

MMRRC Submission

045485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17727045-17766344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17747596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 241 (Y241C)

Ref Sequence

ENSEMBL: ENSMUSP00000092686 (fasta)

Gene Model

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

AlphaFold

Q8CGD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095075
AA Change: Y241C

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

SMART Domains

Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: Y241C

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: Y241C

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

SMART Domains

Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: Y241C

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: ENSMUST00000160305

SMART Domains

Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,614,195	A271V	probably benign	Het
Brpf3	C	T	17: 28,821,356	T917I	probably benign	Het
Camta1	G	A	4: 151,453,295	Q143*	probably null	Het
Ccdc129	T	A	6: 55,976,414	L905*	probably null	Het
Cd3e	C	A	9: 45,002,292	E48D	probably benign	Het
Clca3b	A	G	3: 144,823,498	L805P	probably benign	Het
Ddx43	T	G	9: 78,413,851	N380K	probably damaging	Het
Dtl	A	T	1: 191,563,173	V155E	probably damaging	Het
Elp2	A	G	18: 24,619,485	H365R	probably damaging	Het
Fam126b	A	T	1: 58,548,702	D117E	possibly damaging	Het
Fam78a	T	C	2: 32,069,615	N161S	probably damaging	Het
Far2	T	C	6: 148,158,977	I276T	possibly damaging	Het
Frem3	T	C	8: 80,616,145	L1689P	probably damaging	Het
Gak	T	C	5: 108,613,535	K210R	probably benign	Het
Gm21319	G	T	12: 87,773,544	Q82K	probably benign	Het
Gna14	G	T	19: 16,599,081	D151Y		Het
Hdhd2	A	G	18: 76,955,040	D55G	probably benign	Het
Ifna5	A	G	4: 88,835,873	N117D	probably benign	Het
Ikbkap	A	T	4: 56,778,994	C608S	probably damaging	Het
Il16	T	A	7: 83,670,135	T383S	probably damaging	Het
Il1f5	T	C	2: 24,281,202	F101L	probably damaging	Het
Ino80d	A	G	1: 63,062,219	V416A	possibly damaging	Het
Ints6	T	C	14: 62,707,655	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,902,793		probably null	Het
Kcnq3	T	A	15: 66,002,217	R561W	probably damaging	Het
Kdelc2	T	A	9: 53,390,441	V131E	probably damaging	Het
Lipo4	C	T	19: 33,503,279	E230K	possibly damaging	Het
Lrrc7	A	T	3: 158,148,674	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,482,823		probably null	Het
Mok	A	T	12: 110,815,129		probably null	Het
Mylk2	T	A	2: 152,917,341	V344E	probably damaging	Het
Oacyl	T	C	18: 65,737,895	V389A	probably benign	Het
Olfr284	T	C	15: 98,340,119	Y290C	probably damaging	Het
Olfr335-ps	T	C	2: 36,302,330	F264L	probably benign	Het
Oplah	T	C	15: 76,305,009	D278G	probably benign	Het
Padi3	T	C	4: 140,800,119	N124D	probably benign	Het
Parp3	T	C	9: 106,474,853	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,491,897	G760D	probably benign	Het
Plekhh1	G	A	12: 79,040,577	W13*	probably null	Het
Pou2f1	C	T	1: 165,911,386	A166T	unknown	Het
Ppp1r10	C	T	17: 35,929,434	P539S	probably benign	Het
Prdm11	T	C	2: 92,986,691	T310A	probably benign	Het
Rbm25	A	G	12: 83,676,134	Y777C	probably damaging	Het
Relt	A	T	7: 100,851,448	C72S	probably damaging	Het
Rhag	T	A	17: 40,834,658	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,600,419	L630R	probably damaging	Het
Rnps1	T	C	17: 24,425,087	S274P	unknown	Het
Rtkn2	A	G	10: 68,005,636	I205V	probably benign	Het
Ryr1	A	T	7: 29,013,867	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,760,279	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,497,584	I158F	probably damaging	Het
Slc17a1	A	G	13: 23,874,707	N48S	probably benign	Het
Slc2a1	G	A	4: 119,132,555	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,562,427		probably null	Het
Snx27	A	T	3: 94,528,926	S261T	probably damaging	Het
Spag17	A	T	3: 99,939,375	I72F	possibly damaging	Het
Spink6	T	G	18: 44,071,497	L10R	unknown	Het
Swt1	G	A	1: 151,388,693	T690I	probably benign	Het
Syne2	G	A	12: 75,915,246	E729K	not run	Het
Synj2	C	T	17: 6,037,730	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,961,059	G189D	probably damaging	Het
Thsd4	T	C	9: 60,056,887	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,141,228	D248G	probably benign	Het
Tmem69	A	T	4: 116,553,467	L102Q	probably damaging	Het
Tshr	A	G	12: 91,497,774	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,163,022	V230A	probably benign	Het
Upk3a	T	C	15: 85,019,508	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,633,727	N2259K	probably damaging	Het
Usp24	A	G	4: 106,407,035	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,236,274	C120*	probably null	Het
Vmn2r23	A	T	6: 123,704,579	I149L	probably benign	Het
Vps8	A	T	16: 21,434,972	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,012,685	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,243,746	D58G	probably benign	Het
Zkscan5	A	G	5: 145,218,593	Q358R	probably benign	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
R6961:Crispld1	UTSW	1	17762141	missense	probably damaging	1.00
R7278:Crispld1	UTSW	1	17752878	missense	probably benign	0.01
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'- TAAGCCTAGACCAAATGGAGTC -3'
(R):5'- ACGAATGTGGGTTTAGACTCC -3'

Sequencing Primer
(F):5'- GCCTAGACCAAATGGAGTCCATAC -3'
(R):5'- ACTAGGGTTTCCGTTCC -3'

Posted On

2019-09-13