Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Cwh43'

433803

Institutional Source

Beutler Lab

Gene Symbol

Cwh43

Ensembl Gene

ENSMUSG00000029154

Gene Name

cell wall biogenesis 43 C-terminal homolog

Synonyms

C130090K23Rik

MMRRC Submission

043032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73563418-73610778 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 73565574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 46 (C46*)

Ref Sequence

ENSEMBL: ENSMUSP00000069563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031040] [ENSMUST00000065543]

AlphaFold

Q91YL7

Predicted Effect

probably null
Transcript: ENSMUST00000031040
AA Change: C46*

SMART Domains

Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: C46*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	275	297	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	351	368	N/A	INTRINSIC
transmembrane domain	395	412	N/A	INTRINSIC
Pfam:Exo_endo_phos	435	580	5.1e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000065543
AA Change: C46*

SMART Domains

Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: C46*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC
low complexity region	242	257	N/A	INTRINSIC
transmembrane domain	260	282	N/A	INTRINSIC
transmembrane domain	309	326	N/A	INTRINSIC
Pfam:Exo_endo_phos	345	494	4.7e-9	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	T	7: 119,259,829 (GRCm39)	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,210,850 (GRCm39)	I290V	probably benign	Het
Ankfy1	T	A	11: 72,619,617 (GRCm39)	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,218,951 (GRCm39)	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345 (GRCm39)	I312V	probably benign	Het
Cfap54	A	T	10: 92,864,522 (GRCm39)	M139K	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Cmklr2	A	C	1: 63,223,058 (GRCm39)	V59G	probably damaging	Het
Cyp1a2	A	T	9: 57,586,303 (GRCm39)	I405N	probably damaging	Het
Dlc1	G	T	8: 37,051,879 (GRCm39)	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,304,613 (GRCm39)	N1546S	probably benign	Het
Elmo1	A	G	13: 20,756,555 (GRCm39)	I548V	probably benign	Het
Exoc6	A	G	19: 37,588,065 (GRCm39)	D566G	probably benign	Het
Fam20b	T	C	1: 156,533,299 (GRCm39)	T106A	probably damaging	Het
Fam83h	T	C	15: 75,874,752 (GRCm39)	T862A	probably benign	Het
Fgfr1op2	A	T	6: 146,498,860 (GRCm39)		probably null	Het
Gcnt2	A	G	13: 41,014,195 (GRCm39)	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,018,333 (GRCm39)		probably null	Het
Gm5114	C	A	7: 39,058,534 (GRCm39)	E362*	probably null	Het
Gm815	A	G	19: 26,865,769 (GRCm39)	T96A	unknown	Het
Gm8674	A	G	13: 50,054,849 (GRCm39)		noncoding transcript	Het
Gnat3	T	A	5: 18,196,322 (GRCm39)	I56N	probably damaging	Het
Igkv1-133	T	C	6: 67,702,531 (GRCm39)	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,038,471 (GRCm39)	N47K	probably damaging	Het
Nav2	A	G	7: 49,197,917 (GRCm39)	D1182G	probably damaging	Het
Neto2	T	C	8: 86,367,389 (GRCm39)	T480A	probably benign	Het
Npnt	T	G	3: 132,620,148 (GRCm39)	N115T	probably benign	Het
Nr1h5	T	C	3: 102,856,442 (GRCm39)	N279S	possibly damaging	Het
Ntrk2	T	C	13: 59,019,574 (GRCm39)	V395A	probably benign	Het
Or2ak6	T	C	11: 58,593,151 (GRCm39)	L208S	probably damaging	Het
Or5ac23	T	G	16: 59,148,994 (GRCm39)	N293H	probably damaging	Het
Or6c1	A	G	10: 129,517,925 (GRCm39)	S228P	probably damaging	Het
Padi2	A	G	4: 140,660,519 (GRCm39)	K333R	possibly damaging	Het
Pira1	T	A	7: 3,738,514 (GRCm39)	I621F	probably benign	Het
Ptgis	C	A	2: 167,066,039 (GRCm39)	M130I	probably benign	Het
Ptpn4	A	T	1: 119,693,649 (GRCm39)	Y124*	probably null	Het
Saal1	C	T	7: 46,349,072 (GRCm39)	V281M	probably benign	Het
Saxo1	G	A	4: 86,363,961 (GRCm39)	T174I	probably damaging	Het
Slc7a12	G	A	3: 14,545,935 (GRCm39)	V27M	probably damaging	Het
Slco4c1	C	A	1: 96,799,770 (GRCm39)	R22L	probably benign	Het
Slfn9	T	G	11: 82,873,613 (GRCm39)	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,346,897 (GRCm39)	N246K	probably damaging	Het
Stox2	G	T	8: 47,646,548 (GRCm39)	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,693,240 (GRCm39)	F542V	possibly damaging	Het
Topaz1	T	G	9: 122,620,481 (GRCm39)		probably null	Het
Trappc12	G	A	12: 28,741,499 (GRCm39)	R737W	probably damaging	Het
Trim9	A	G	12: 70,393,566 (GRCm39)	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,809,997 (GRCm39)	C149R	probably damaging	Het
Ubald1	G	A	16: 4,693,705 (GRCm39)	T70M	probably damaging	Het
Vash1	G	A	12: 86,735,902 (GRCm39)	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,524,986 (GRCm39)	T343A	probably benign	Het
Zfp397	A	G	18: 24,093,081 (GRCm39)	N189D	probably benign	Het

Other mutations in Cwh43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Cwh43	APN	5	73,578,832 (GRCm39)	missense	possibly damaging	0.93
IGL02225:Cwh43	APN	5	73,578,910 (GRCm39)	missense	probably damaging	1.00
R0115:Cwh43	UTSW	5	73,575,370 (GRCm39)	missense	probably damaging	1.00
R0423:Cwh43	UTSW	5	73,574,085 (GRCm39)	missense	probably benign	0.00
R0481:Cwh43	UTSW	5	73,575,370 (GRCm39)	missense	probably damaging	1.00
R0786:Cwh43	UTSW	5	73,565,526 (GRCm39)	nonsense	probably null
R1635:Cwh43	UTSW	5	73,591,653 (GRCm39)	missense	probably damaging	1.00
R1729:Cwh43	UTSW	5	73,565,561 (GRCm39)	missense	probably damaging	0.99
R1784:Cwh43	UTSW	5	73,565,561 (GRCm39)	missense	probably damaging	0.99
R1927:Cwh43	UTSW	5	73,610,417 (GRCm39)	missense	probably benign	0.27
R2070:Cwh43	UTSW	5	73,578,860 (GRCm39)	missense	probably damaging	1.00
R2104:Cwh43	UTSW	5	73,578,873 (GRCm39)	missense	possibly damaging	0.93
R2136:Cwh43	UTSW	5	73,572,397 (GRCm39)	missense	probably benign	0.01
R2517:Cwh43	UTSW	5	73,578,886 (GRCm39)	missense	probably benign	0.04
R2964:Cwh43	UTSW	5	73,565,679 (GRCm39)	splice site	probably benign
R3713:Cwh43	UTSW	5	73,595,835 (GRCm39)	missense	probably damaging	0.99
R4291:Cwh43	UTSW	5	73,569,275 (GRCm39)	missense	probably benign	0.35
R4333:Cwh43	UTSW	5	73,598,722 (GRCm39)	missense	probably damaging	0.99
R4869:Cwh43	UTSW	5	73,586,016 (GRCm39)	critical splice donor site	probably null
R5071:Cwh43	UTSW	5	73,581,256 (GRCm39)	critical splice acceptor site	probably null
R5309:Cwh43	UTSW	5	73,574,110 (GRCm39)	missense	probably benign
R5451:Cwh43	UTSW	5	73,589,256 (GRCm39)	missense	probably benign	0.14
R5601:Cwh43	UTSW	5	73,575,283 (GRCm39)	splice site	probably null
R5652:Cwh43	UTSW	5	73,575,484 (GRCm39)	missense	probably damaging	0.99
R5820:Cwh43	UTSW	5	73,585,975 (GRCm39)	nonsense	probably null
R5823:Cwh43	UTSW	5	73,569,213 (GRCm39)	missense	probably benign	0.27
R6351:Cwh43	UTSW	5	73,569,248 (GRCm39)	missense	possibly damaging	0.55
R7467:Cwh43	UTSW	5	73,569,311 (GRCm39)	missense	probably damaging	0.99
R7583:Cwh43	UTSW	5	73,591,632 (GRCm39)	missense	probably benign	0.00
R7788:Cwh43	UTSW	5	73,572,377 (GRCm39)	missense	probably damaging	1.00
R8070:Cwh43	UTSW	5	73,578,806 (GRCm39)	missense	possibly damaging	0.64
R8282:Cwh43	UTSW	5	73,591,572 (GRCm39)	missense	probably damaging	0.97
R8471:Cwh43	UTSW	5	73,591,644 (GRCm39)	missense	probably damaging	1.00
R8865:Cwh43	UTSW	5	73,598,702 (GRCm39)	missense	probably benign	0.05
R9462:Cwh43	UTSW	5	73,591,695 (GRCm39)	missense	probably benign	0.00
R9638:Cwh43	UTSW	5	73,565,486 (GRCm39)	missense	possibly damaging	0.91
R9651:Cwh43	UTSW	5	73,572,340 (GRCm39)	missense	probably benign	0.00
R9652:Cwh43	UTSW	5	73,572,340 (GRCm39)	missense	probably benign	0.00
R9660:Cwh43	UTSW	5	73,565,629 (GRCm39)	missense	possibly damaging	0.74
R9728:Cwh43	UTSW	5	73,565,629 (GRCm39)	missense	possibly damaging	0.74
Z1177:Cwh43	UTSW	5	73,587,813 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTGGGGAGGGAACTAAATC -3'
(R):5'- TCCTCGGTCAATGAAAGGTC -3'

Sequencing Primer
(F):5'- CTCAGGACCTTTGGATGAACAGTC -3'
(R):5'- TCGGTCAATGAAAGGTCTACAC -3'

Posted On

2016-10-06