Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Creld1'

167095

Institutional Source

Beutler Lab

Gene Symbol

Creld1

Ensembl Gene

ENSMUSG00000030284

Gene Name

cysteine-rich with EGF-like domains 1

Synonyms

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113460317-113470304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113466745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 243 (C243S)

Ref Sequence

ENSEMBL: ENSMUSP00000032422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000204268]

AlphaFold

Q91XD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032422
AA Change: C243S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: C243S

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:DUF3456	45	103	1.7e-9	PFAM
EGF	154	193	2.11e1	SMART
FU	208	255	1.66e-1	SMART
EGF	213	244	2.2e1	SMART
EGF_like	245	290	4.26e-3	SMART
FU	268	315	4.46e-2	SMART
EGF_CA	305	344	1.1e-7	SMART
transmembrane domain	363	382	N/A	INTRINSIC
transmembrane domain	387	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101059

SMART Domains

Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	423	447	N/A	INTRINSIC
transmembrane domain	463	485	N/A	INTRINSIC
transmembrane domain	492	511	N/A	INTRINSIC
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	561	583	N/A	INTRINSIC
transmembrane domain	588	610	N/A	INTRINSIC
transmembrane domain	630	652	N/A	INTRINSIC
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	885	905	N/A	INTRINSIC
low complexity region	927	943	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156764

Predicted Effect

probably benign
Transcript: ENSMUST00000204134

SMART Domains

Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204268

SMART Domains

Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204920

Meta Mutation Damage Score

0.8783

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably damaging	Het

Other mutations in Creld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Creld1	APN	6	113,460,921 (GRCm39)	missense	probably benign
IGL01959:Creld1	APN	6	113,469,794 (GRCm39)	missense	probably damaging	0.99
IGL03061:Creld1	APN	6	113,465,058 (GRCm39)	missense	probably damaging	1.00
IGL03266:Creld1	APN	6	113,466,558 (GRCm39)	missense	probably benign	0.05
impregnable	UTSW	6	113,466,440 (GRCm39)	missense	probably damaging	1.00
R1118:Creld1	UTSW	6	113,468,656 (GRCm39)	missense	probably benign	0.01
R1144:Creld1	UTSW	6	113,460,922 (GRCm39)	missense	probably benign	0.37
R1192:Creld1	UTSW	6	113,466,440 (GRCm39)	missense	probably damaging	1.00
R1724:Creld1	UTSW	6	113,461,535 (GRCm39)	missense	possibly damaging	0.81
R1882:Creld1	UTSW	6	113,469,166 (GRCm39)	missense	probably damaging	1.00
R2411:Creld1	UTSW	6	113,466,737 (GRCm39)	missense	probably benign	0.09
R3956:Creld1	UTSW	6	113,469,190 (GRCm39)	missense	possibly damaging	0.68
R4757:Creld1	UTSW	6	113,469,208 (GRCm39)	missense	probably benign	0.08
R4939:Creld1	UTSW	6	113,465,140 (GRCm39)	missense	probably benign	0.13
R5887:Creld1	UTSW	6	113,469,860 (GRCm39)	makesense	probably null
R6813:Creld1	UTSW	6	113,466,530 (GRCm39)	missense	probably damaging	1.00
R7842:Creld1	UTSW	6	113,465,100 (GRCm39)	missense	probably damaging	1.00
R7971:Creld1	UTSW	6	113,468,933 (GRCm39)	missense	probably benign	0.02
R8357:Creld1	UTSW	6	113,468,699 (GRCm39)	critical splice donor site	probably null
R8457:Creld1	UTSW	6	113,468,699 (GRCm39)	critical splice donor site	probably null
R8514:Creld1	UTSW	6	113,469,830 (GRCm39)	missense	probably damaging	1.00
R8783:Creld1	UTSW	6	113,468,686 (GRCm39)	missense	probably damaging	1.00
R9144:Creld1	UTSW	6	113,461,468 (GRCm39)	missense	probably damaging	0.99
R9343:Creld1	UTSW	6	113,466,728 (GRCm39)	missense	probably benign	0.03
R9514:Creld1	UTSW	6	113,469,765 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCAGCCATCTGGTATGTTCG -3'
(R):5'- GGCCAAAGAAGCACCTCTTCTAAGG -3'

Sequencing Primer
(F):5'- TTCGGGTAGGTAGCCAGAAG -3'
(R):5'- CTAAGGTACTCCTGGTTCATCAGTG -3'

Posted On

2014-04-13