Mutagenetix > Incidental Mutation

Incidental Mutation 'R4333:Cwh43'

323662

Institutional Source

Beutler Lab

Gene Symbol

Cwh43

Ensembl Gene

ENSMUSG00000029154

Gene Name

cell wall biogenesis 43 C-terminal homolog

Synonyms

C130090K23Rik

Accession Numbers

Essential gene?

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

Stock #

R4333 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73563418-73610778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73598722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 647 (D647G)

Ref Sequence

ENSEMBL: ENSMUSP00000031040 (fasta)

Gene Model

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

AlphaFold

Q91YL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031040
AA Change: D647G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: D647G

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 damaging
Transcript: ENSMUST00000065543
AA Change: D561G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: D561G

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,246 (GRCm39)	V193I	possibly damaging	Het
Cadps	C	T	14: 12,467,031 (GRCm38)	R967H	probably damaging	Het
Dab2ip	T	A	2: 35,551,632 (GRCm39)	*164R	probably null	Het
Ddx18	A	T	1: 121,492,331 (GRCm39)	D125E	probably benign	Het
Fbxw7	T	C	3: 84,879,802 (GRCm39)	C375R	probably damaging	Het
Iqca1l	A	G	5: 24,749,368 (GRCm39)	L710P	probably damaging	Het
Khnyn	A	G	14: 56,131,499 (GRCm39)	D536G	probably damaging	Het
Lamp3	T	C	16: 19,492,186 (GRCm39)	I353V	probably benign	Het
Med13	A	G	11: 86,179,009 (GRCm39)	F1429S	probably benign	Het
Mybl1	T	C	1: 9,742,523 (GRCm39)	K621E	probably damaging	Het
Myo19	G	A	11: 84,799,114 (GRCm39)	A816T	probably benign	Het
Or10d1c	A	G	9: 38,893,884 (GRCm39)	I152T	possibly damaging	Het
Or51h7	A	T	7: 102,591,176 (GRCm39)	L203I	possibly damaging	Het
Rnf2	T	C	1: 151,348,827 (GRCm39)	T98A	possibly damaging	Het
Samm50	A	G	15: 84,087,031 (GRCm39)	K280R	probably benign	Het
Satb2	T	C	1: 56,884,745 (GRCm39)	N511S	probably damaging	Het
Tbc1d19	A	G	5: 54,029,619 (GRCm39)	T327A	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,199 (GRCm39)	N786S	probably damaging	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
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
R5471:Cwh43	UTSW	5	73,565,574 (GRCm39)	nonsense	probably null
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'- ATTCGGAAGGTGCTAGCCATTAG -3'
(R):5'- TCCTTCACTTGAAATGAGCCTCTAG -3'

Sequencing Primer
(F):5'- GCCATTAGCGTTCTCTGGG -3'
(R):5'- TACCACAATCTTGAGCACGTATGAGG -3'

Posted On

2015-06-24