Mutagenetix > Incidental Mutation

Incidental Mutation 'R3831:Kremen1'

274011

Institutional Source

Beutler Lab

Gene Symbol

Kremen1

Ensembl Gene

ENSMUSG00000020393

Gene Name

kringle containing transmembrane protein 1

Synonyms

Krm1

MMRRC Submission

040777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R3831 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

5141552-5211558 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to GGGC at 5151794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020662]

AlphaFold

Q99N43

Predicted Effect

probably benign
Transcript: ENSMUST00000020662

SMART Domains

Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
KR	30	116	9.81e-23	SMART
Pfam:WSC	119	200	3.7e-21	PFAM
CUB	214	321	4.27e-19	SMART
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151978

SMART Domains

Protein: ENSMUSP00000121252
Gene: ENSMUSG00000020393

Domain	Start	End	E-Value	Type
Pfam:WSC	17	98	2.3e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,880,992 (GRCm39)	T527A	unknown	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1c	A	G	6: 118,581,424 (GRCm39)	S1727P	probably benign	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cemip2	T	G	19: 21,825,315 (GRCm39)	S1204R	probably damaging	Het
Cibar2	T	A	8: 120,901,633 (GRCm39)	Y24F	probably damaging	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Frmd4b	T	A	6: 97,389,486 (GRCm39)	K73*	probably null	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hkdc1	T	C	10: 62,235,991 (GRCm39)	Y517C	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Inpp5j	T	C	11: 3,450,229 (GRCm39)	D228G	probably damaging	Het
Itih5	A	G	2: 10,256,081 (GRCm39)	D849G	possibly damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Melk	C	A	4: 44,345,021 (GRCm39)	Q384K	probably benign	Het
Morc2b	C	T	17: 33,356,233 (GRCm39)	S513N	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Or2t45	T	A	11: 58,669,571 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,589 (GRCm39)	F100S	probably damaging	Het
Or9e1	T	G	11: 58,732,686 (GRCm39)	F249V	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Rgs5	A	G	1: 169,504,470 (GRCm39)	Y40C	probably benign	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Selp	T	A	1: 163,959,849 (GRCm39)	C368*	probably null	Het
Sema3e	T	A	5: 14,276,496 (GRCm39)	C294S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Smarca5	A	T	8: 81,455,123 (GRCm39)	N199K	probably damaging	Het
Sorbs2	A	T	8: 46,248,132 (GRCm39)	D442V	probably damaging	Het
Specc1	T	A	11: 62,008,793 (GRCm39)	I183N	probably damaging	Het
Tcerg1	G	T	18: 42,701,554 (GRCm39)	R872L	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,946,938 (GRCm39)	T505A	probably benign	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zranb1	C	T	7: 132,584,505 (GRCm39)	A591V	probably damaging	Het

Other mutations in Kremen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Kremen1	APN	11	5,149,667 (GRCm39)	missense	probably benign	0.00
R0038:Kremen1	UTSW	11	5,157,703 (GRCm39)	splice site	probably benign
R0511:Kremen1	UTSW	11	5,165,447 (GRCm39)	missense	probably damaging	1.00
R1557:Kremen1	UTSW	11	5,165,373 (GRCm39)	splice site	probably null
R1579:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1729:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1784:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R1800:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2079:Kremen1	UTSW	11	5,151,794 (GRCm39)	frame shift	probably null
R2100:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2286:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2298:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2352:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2512:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2761:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R2846:Kremen1	UTSW	11	5,151,793 (GRCm39)	unclassified	probably benign
R2882:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2944:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2980:Kremen1	UTSW	11	5,151,794 (GRCm39)	unclassified	probably benign
R3151:Kremen1	UTSW	11	5,145,012 (GRCm39)	missense	probably damaging	0.99
R3610:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R3957:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R4231:Kremen1	UTSW	11	5,193,881 (GRCm39)	nonsense	probably null
R4397:Kremen1	UTSW	11	5,149,610 (GRCm39)	missense	probably benign	0.36
R5627:Kremen1	UTSW	11	5,149,709 (GRCm39)	missense	probably benign	0.01
R6818:Kremen1	UTSW	11	5,145,051 (GRCm39)	missense	probably benign	0.02
R7584:Kremen1	UTSW	11	5,144,964 (GRCm39)	missense	possibly damaging	0.95
R8803:Kremen1	UTSW	11	5,144,981 (GRCm39)	missense	probably benign	0.01
T0975:Kremen1	UTSW	11	5,145,105 (GRCm39)	missense	probably benign	0.02
Y4339:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGAAATGATCTGTAGCTGAGTCAG -3'
(R):5'- TGACTTCCCTGACACCTACG -3'

Sequencing Primer
(F):5'- CCCCAAGATCCAATTTAGGCTTG -3'
(R):5'- TGACACCTACGCCACTGG -3'

Posted On

2015-04-02