Mutagenetix > Incidental Mutation

Incidental Mutation 'R7971:Creld1'

650608

Institutional Source

Beutler Lab

Gene Symbol

Creld1

Ensembl Gene

ENSMUSG00000030284

Gene Name

cysteine-rich with EGF-like domains 1

Synonyms

MMRRC Submission

046014-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7971 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113460317-113470304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113468933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 299 (V299A)

Ref Sequence

ENSEMBL: ENSMUSP00000032422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000204268] [ENSMUST00000205075] [ENSMUST00000205170]

AlphaFold

Q91XD7

Predicted Effect

probably benign
Transcript: ENSMUST00000032422
AA Change: V299A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: V299A

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

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

probably benign
Transcript: ENSMUST00000205075

SMART Domains

Protein: ENSMUSP00000145089
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

Predicted Effect

probably benign
Transcript: ENSMUST00000205170

SMART Domains

Protein: ENSMUSP00000145183
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

Coding Region Coverage

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

Validation Efficiency

98% (46/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	G	A	11: 81,754,526 (GRCm39)	A16T	unknown	Het
Abcc1	T	A	16: 14,266,443 (GRCm39)	D880E	probably benign	Het
Adamts2	G	A	11: 50,647,523 (GRCm39)	V299I	probably damaging	Het
Akap6	T	C	12: 53,186,578 (GRCm39)	S1331P	probably damaging	Het
Alms1	T	C	6: 85,605,661 (GRCm39)	L1968S	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Cacnb2	A	T	2: 14,976,409 (GRCm39)	M277L	possibly damaging	Het
Cd80	T	A	16: 38,294,391 (GRCm39)	Y91*	probably null	Het
Cfap46	A	G	7: 139,215,043 (GRCm39)	S1561P	unknown	Het
Clasp1	C	T	1: 118,449,559 (GRCm39)	R647W	probably damaging	Het
Csk	C	A	9: 57,535,970 (GRCm39)	G260V	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dgkg	G	A	16: 22,388,966 (GRCm39)	Q403*	probably null	Het
Dnaaf2	T	C	12: 69,244,119 (GRCm39)	D314G	probably damaging	Het
Dsp	T	A	13: 38,376,499 (GRCm39)	L1428Q	probably damaging	Het
Fastkd1	A	G	2: 69,537,703 (GRCm39)	V293A	probably benign	Het
Gm4353	C	A	7: 115,682,747 (GRCm39)	S278I	possibly damaging	Het
Hmgb2	A	G	8: 57,966,168 (GRCm39)	M75V	possibly damaging	Het
Hoxa4	G	A	6: 52,168,711 (GRCm39)		probably benign	Het
Ifi206	A	T	1: 173,298,976 (GRCm39)	W877R	unknown	Het
Ifi44	T	A	3: 151,454,857 (GRCm39)	I123F	possibly damaging	Het
Kcnh6	A	G	11: 105,908,353 (GRCm39)	Y323C	probably damaging	Het
Lars1	T	C	18: 42,351,631 (GRCm39)	T858A	probably benign	Het
Mest	T	A	6: 30,740,734 (GRCm39)	I38N		Het
Npy2r	A	T	3: 82,448,175 (GRCm39)	I200N	probably damaging	Het
Olfm4	T	A	14: 80,259,240 (GRCm39)	M496K	probably damaging	Het
Olfml2a	A	T	2: 38,831,794 (GRCm39)		probably null	Het
Omd	A	T	13: 49,743,730 (GRCm39)	H260L	probably benign	Het
Or8c16	G	T	9: 38,130,843 (GRCm39)	L238F	probably benign	Het
Pigk	C	A	3: 152,450,176 (GRCm39)	Q274K	probably benign	Het
Pmpca	G	A	2: 26,283,164 (GRCm39)	G352R	probably damaging	Het
Prex1	C	T	2: 166,423,859 (GRCm39)	S1181N	probably damaging	Het
Prkg2	A	T	5: 99,079,873 (GRCm39)	F762Y	probably damaging	Het
Rcc1l	A	G	5: 134,194,208 (GRCm39)	S250P	probably damaging	Het
Rufy1	A	T	11: 50,312,498 (GRCm39)	F152Y	probably damaging	Het
Scaf1	T	A	7: 44,652,965 (GRCm39)	T1179S	unknown	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Shroom3	C	T	5: 93,098,933 (GRCm39)	S1471L	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc13a4	A	G	6: 35,248,695 (GRCm39)	L484P	probably damaging	Het
Slc35a1	T	C	4: 34,664,161 (GRCm39)	D319G	probably benign	Het
Synm	T	C	7: 67,384,983 (GRCm39)	E893G	possibly damaging	Het
Tatdn2	A	G	6: 113,687,235 (GRCm39)		probably null	Het
Thada	T	A	17: 84,580,197 (GRCm39)	D1419V	possibly damaging	Het
Tmem87b	A	G	2: 128,692,250 (GRCm39)	D535G	probably null	Het
Tnfrsf25	A	C	4: 152,204,193 (GRCm39)	Q378P	probably damaging	Het
Trim34a	T	C	7: 103,897,025 (GRCm39)	C30R	probably damaging	Het
Triml2	T	C	8: 43,643,313 (GRCm39)	S212P	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	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
R1517:Creld1	UTSW	6	113,466,745 (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
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'- AGAAGGATCCTACGAGTGCC -3'
(R):5'- CTCACACTCATCCACATCTGGG -3'

Sequencing Primer
(F):5'- ATCCTACGAGTGCCGAGGTC -3'
(R):5'- ATCCACATCTGGGGGTGG -3'

Posted On

2020-09-15