Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Crim1'

353797

Institutional Source

Beutler Lab

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1 (chordin like)

Synonyms

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78303025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 303 (C303F)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112498]

AlphaFold

Q9JLL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000112498
AA Change: C303F

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

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: C303F

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IB	35	111	1.87e-5	SMART
VWC	336	390	6.04e-13	SMART
VWC	403	456	1.15e-9	SMART
Pfam:Antistasin	469	498	4.5e-10	PFAM
Pfam:Antistasin	505	532	1.5e-8	PFAM
Pfam:Antistasin	539	564	5.7e-9	PFAM
Pfam:Antistasin	567	592	1.7e-10	PFAM
VWC	608	662	1.26e-10	SMART
VWC	679	734	1.37e-11	SMART
VWC	753	808	1.46e-11	SMART
VWC	819	873	1.01e-14	SMART
transmembrane domain	940	962	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175238

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153 (GRCm38)	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326 (GRCm38)	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986 (GRCm38)	S90*	probably null	Het
Amn	A	T	12: 111,276,068 (GRCm38)	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603 (GRCm38)	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465 (GRCm38)	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085 (GRCm38)	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253 (GRCm38)	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840 (GRCm38)		probably null	Het
Cabp7	T	A	11: 4,739,265 (GRCm38)	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910 (GRCm38)	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724 (GRCm38)	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460 (GRCm38)	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456 (GRCm38)	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465 (GRCm38)	L174P	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937 (GRCm38)	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300 (GRCm38)	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012 (GRCm38)	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619 (GRCm38)	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123 (GRCm38)	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126 (GRCm38)	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631 (GRCm38)	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447 (GRCm38)	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720 (GRCm38)	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810 (GRCm38)	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258 (GRCm38)		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575 (GRCm38)	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678 (GRCm38)	R312*	probably null	Het
Gsap	T	C	5: 21,246,971 (GRCm38)		probably benign	Het
H2-Ab1	C	A	17: 34,264,809 (GRCm38)	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285 (GRCm38)	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730 (GRCm38)		probably benign	Het
Insr	T	C	8: 3,161,709 (GRCm38)	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576 (GRCm38)	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989 (GRCm38)	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823 (GRCm38)	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412 (GRCm38)	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083 (GRCm38)	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792 (GRCm38)	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517 (GRCm38)	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321 (GRCm38)	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317 (GRCm38)	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223 (GRCm38)	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770 (GRCm38)	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735 (GRCm38)	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196 (GRCm38)	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065 (GRCm38)	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419 (GRCm38)	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035 (GRCm38)	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296 (GRCm38)	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633 (GRCm38)	Q906L	probably benign	Het
Or10k2	T	A	8: 83,541,860 (GRCm38)	S239T	probably damaging	Het
Or4c12	T	C	2: 89,943,869 (GRCm38)	D82G	probably damaging	Het
Or8c17	C	A	9: 38,269,414 (GRCm38)	N292K	probably damaging	Het
Or9s23	T	C	1: 92,573,330 (GRCm38)	I53T	possibly damaging	Het
Ovch2	T	A	7: 107,796,548 (GRCm38)	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935 (GRCm38)	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753 (GRCm38)	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963 (GRCm38)	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135 (GRCm38)	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898 (GRCm38)	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798 (GRCm38)	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868 (GRCm38)	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635 (GRCm38)	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730 (GRCm38)	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871 (GRCm38)	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355 (GRCm38)	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245 (GRCm38)	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702 (GRCm38)	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469 (GRCm38)	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208 (GRCm38)		probably benign	Het
Stk3	A	G	15: 35,114,565 (GRCm38)	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284 (GRCm38)	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097 (GRCm38)	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791 (GRCm38)	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397 (GRCm38)		probably null	Het
Tspan11	A	G	6: 127,938,235 (GRCm38)	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431 (GRCm38)	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819 (GRCm38)	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,856 (GRCm38)	N542I	probably damaging	Het
Zfp735	A	T	11: 73,711,855 (GRCm38)	N542Y	probably damaging	Het
Zfp869	T	A	8: 69,708,143 (GRCm38)	E65D	probably benign	Het

Other mutations in Crim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Crim1	APN	17	78,370,091 (GRCm38)	missense	probably damaging	1.00
IGL01090:Crim1	APN	17	78,347,229 (GRCm38)	missense	probably damaging	0.97
IGL01490:Crim1	APN	17	78,335,296 (GRCm38)	missense	possibly damaging	0.94
IGL01686:Crim1	APN	17	78,344,434 (GRCm38)	missense	probably benign	0.09
IGL01769:Crim1	APN	17	78,313,235 (GRCm38)	missense	probably benign	0.02
IGL02004:Crim1	APN	17	78,372,575 (GRCm38)	splice site	probably benign
IGL02211:Crim1	APN	17	78,355,145 (GRCm38)	missense	probably damaging	1.00
IGL02275:Crim1	APN	17	78,369,998 (GRCm38)	missense	possibly damaging	0.56
IGL02408:Crim1	APN	17	78,315,654 (GRCm38)	missense	possibly damaging	0.78
IGL02411:Crim1	APN	17	78,335,334 (GRCm38)	nonsense	probably null
IGL02453:Crim1	APN	17	78,344,484 (GRCm38)	missense	probably damaging	1.00
IGL02481:Crim1	APN	17	78,350,798 (GRCm38)	missense	probably damaging	0.98
IGL02632:Crim1	APN	17	78,372,674 (GRCm38)	missense	probably benign	0.08
IGL02652:Crim1	APN	17	78,315,677 (GRCm38)	missense	probably damaging	1.00
IGL02696:Crim1	APN	17	78,279,973 (GRCm38)	missense	probably damaging	0.96
IGL02811:Crim1	APN	17	78,350,701 (GRCm38)	missense	possibly damaging	0.62
IGL03105:Crim1	APN	17	78,315,750 (GRCm38)	splice site	probably benign
IGL03349:Crim1	APN	17	78,355,150 (GRCm38)	nonsense	probably null
bugeye	UTSW	17	78,281,347 (GRCm38)	missense	possibly damaging	0.94
IGL03097:Crim1	UTSW	17	78,367,798 (GRCm38)	missense	probably benign	0.00
R0227:Crim1	UTSW	17	78,344,509 (GRCm38)	splice site	probably benign
R0458:Crim1	UTSW	17	78,313,226 (GRCm38)	missense	probably damaging	0.98
R0482:Crim1	UTSW	17	78,372,579 (GRCm38)	missense	probably benign	0.00
R0989:Crim1	UTSW	17	78,200,944 (GRCm38)	missense	probably benign	0.21
R1266:Crim1	UTSW	17	78,200,833 (GRCm38)	small deletion	probably benign
R1529:Crim1	UTSW	17	78,367,954 (GRCm38)	missense	probably benign
R1679:Crim1	UTSW	17	78,200,799 (GRCm38)	missense	probably benign	0.27
R1909:Crim1	UTSW	17	78,313,127 (GRCm38)	missense	probably benign	0.26
R2273:Crim1	UTSW	17	78,355,179 (GRCm38)	critical splice donor site	probably null
R3899:Crim1	UTSW	17	78,281,354 (GRCm38)	missense	probably benign	0.00
R3909:Crim1	UTSW	17	78,281,239 (GRCm38)	splice site	probably benign
R4092:Crim1	UTSW	17	78,350,836 (GRCm38)	missense	probably damaging	1.00
R4154:Crim1	UTSW	17	78,237,843 (GRCm38)	missense	probably benign	0.01
R5022:Crim1	UTSW	17	78,280,129 (GRCm38)	missense	possibly damaging	0.95
R5073:Crim1	UTSW	17	78,281,347 (GRCm38)	missense	possibly damaging	0.94
R5089:Crim1	UTSW	17	78,374,090 (GRCm38)	missense	probably damaging	1.00
R5284:Crim1	UTSW	17	78,313,266 (GRCm38)	missense	possibly damaging	0.83
R5461:Crim1	UTSW	17	78,237,807 (GRCm38)	missense	probably damaging	1.00
R5635:Crim1	UTSW	17	78,315,641 (GRCm38)	missense	probably damaging	1.00
R5686:Crim1	UTSW	17	78,374,083 (GRCm38)	missense	possibly damaging	0.63
R5956:Crim1	UTSW	17	78,315,717 (GRCm38)	missense	probably damaging	1.00
R6117:Crim1	UTSW	17	78,303,088 (GRCm38)	missense	probably damaging	1.00
R6129:Crim1	UTSW	17	78,281,309 (GRCm38)	missense	probably benign	0.17
R6265:Crim1	UTSW	17	78,370,085 (GRCm38)	missense	probably benign	0.01
R6812:Crim1	UTSW	17	78,315,600 (GRCm38)	missense	probably damaging	1.00
R6858:Crim1	UTSW	17	78,315,627 (GRCm38)	missense	probably damaging	1.00
R7920:Crim1	UTSW	17	78,303,064 (GRCm38)	missense	probably damaging	1.00
R8022:Crim1	UTSW	17	78,315,555 (GRCm38)	missense	possibly damaging	0.82
R8434:Crim1	UTSW	17	78,347,257 (GRCm38)	missense	probably benign	0.00
R8782:Crim1	UTSW	17	78,200,877 (GRCm38)	missense	probably damaging	1.00
R8961:Crim1	UTSW	17	78,372,688 (GRCm38)	missense	possibly damaging	0.65
R8971:Crim1	UTSW	17	78,345,980 (GRCm38)	missense	possibly damaging	0.89
R9245:Crim1	UTSW	17	78,344,442 (GRCm38)	missense	probably damaging	1.00
R9250:Crim1	UTSW	17	78,370,042 (GRCm38)	missense	probably benign
R9401:Crim1	UTSW	17	78,350,865 (GRCm38)	frame shift	probably null
R9402:Crim1	UTSW	17	78,350,865 (GRCm38)	frame shift	probably null
R9644:Crim1	UTSW	17	78,280,068 (GRCm38)	missense	probably damaging	1.00
R9702:Crim1	UTSW	17	78,374,087 (GRCm38)	missense	probably damaging	1.00
R9710:Crim1	UTSW	17	78,303,075 (GRCm38)	nonsense	probably null
X0064:Crim1	UTSW	17	78,200,833 (GRCm38)	small deletion	probably benign
Z1088:Crim1	UTSW	17	78,367,835 (GRCm38)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGGAGAGTTACTTACTAGCACAACC -3'
(R):5'- CAGCATGGCCCTAAGTATGC -3'

Sequencing Primer
(F):5'- GAGTTACTTACTAGCACAACCGTTCC -3'
(R):5'- ATGGCCCTAAGTATGCACCCTG -3'

Posted On

2015-10-21