Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Creld1'

715976

Institutional Source

Beutler Lab

Gene Symbol

Creld1

Ensembl Gene

ENSMUSG00000030284

Gene Name

cysteine-rich with EGF-like domains 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113460317-113470304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113466728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 237 (A237V)

Ref Sequence

ENSEMBL: ENSMUSP00000032422 (fasta)

Gene Model

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

AlphaFold

Q91XD7

Predicted Effect

probably benign
Transcript: ENSMUST00000032422
AA Change: A237V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: A237V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,547,505 (GRCm39)	I960V	probably benign	Het
Alpk3	A	G	7: 80,742,079 (GRCm39)	D632G	probably benign	Het
Aplp2	A	T	9: 31,122,935 (GRCm39)	L30Q	unknown	Het
Axl	A	T	7: 25,473,544 (GRCm39)	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,077,090 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,701 (GRCm39)	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,875,999 (GRCm39)	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,364,553 (GRCm39)	G594S	probably damaging	Het
Clcn6	A	G	4: 148,098,458 (GRCm39)	S519P	probably benign	Het
Cnot2	T	G	10: 116,346,326 (GRCm39)	H92P		Het
Col2a1	T	C	15: 97,877,775 (GRCm39)	D1049G	probably damaging	Het
Csf2rb2	A	T	15: 78,171,287 (GRCm39)		probably benign	Het
Csmd3	G	A	15: 48,015,001 (GRCm39)	T643I	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fcmr	A	T	1: 130,802,072 (GRCm39)	T109S		Het
Grap	C	A	11: 61,562,551 (GRCm39)	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,730,826 (GRCm39)		probably benign	Het
Kidins220	A	G	12: 25,058,078 (GRCm39)	N561S	probably damaging	Het
Mri1	A	T	8: 84,983,796 (GRCm39)	S32T	probably benign	Het
Mrtfb	T	C	16: 13,218,791 (GRCm39)	V479A	probably benign	Het
Muc4	A	T	16: 32,569,971 (GRCm39)	T344S	possibly damaging	Het
Npc1	A	G	18: 12,334,769 (GRCm39)	I661T	possibly damaging	Het
Npy1r	A	G	8: 67,156,751 (GRCm39)	N57S	probably damaging	Het
Pds5b	A	G	5: 150,704,186 (GRCm39)	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,563 (GRCm39)	V400D	probably damaging	Het
Polr2l	A	G	7: 141,053,246 (GRCm39)	I56T	probably benign	Het
Ppat	A	G	5: 77,063,884 (GRCm39)	I422T	probably benign	Het
Prkcg	T	A	7: 3,359,124 (GRCm39)	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,639,540 (GRCm39)		probably benign	Het
Rnf152	A	T	1: 105,212,251 (GRCm39)	L102Q		Het
Samd12	A	G	15: 53,583,088 (GRCm39)	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,917,299 (GRCm39)	R123S	probably benign	Het
Slit1	T	A	19: 41,615,737 (GRCm39)	N794I	probably damaging	Het
Surf6	T	C	2: 26,783,006 (GRCm39)	K154R	probably damaging	Het
Tln2	C	T	9: 67,230,353 (GRCm39)	A71T	probably benign	Het
Trim3	A	G	7: 105,260,673 (GRCm39)	Y649H	probably benign	Het
Ttll7	T	A	3: 146,667,497 (GRCm39)	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,245,287 (GRCm39)	D104G	probably damaging	Het
Upp2	A	G	2: 58,645,339 (GRCm39)		probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r119	A	G	7: 20,746,358 (GRCm39)	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,990,546 (GRCm39)	H48L	probably damaging	Het
Wdr11	T	C	7: 129,232,523 (GRCm39)		probably null	Het
Zcchc17	T	C	4: 130,210,546 (GRCm39)	D207G	probably damaging	Het
Zfp78	T	C	7: 6,381,942 (GRCm39)	S331P	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
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
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
R9514:Creld1	UTSW	6	113,469,765 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCCATCTGGTATGTTCG -3'
(R):5'- ACTCCTGGTTCATCAGTGC -3'

Sequencing Primer
(F):5'- TTCGGGTAGGTAGCCAGAAGC -3'
(R):5'- GTGTGGACATGACTCTTCCACAG -3'

Posted On

2022-06-15