Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Cwh43'

620220

Institutional Source

Beutler Lab

Gene Symbol

Cwh43

Ensembl Gene

ENSMUSG00000029154

Gene Name

cell wall biogenesis 43 C-terminal homolog

Synonyms

C130090K23Rik

MMRRC Submission

067505-MU

Accession Numbers

Essential gene?

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

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73563418-73610778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73578806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 357 (M357K)

Ref Sequence

ENSEMBL: ENSMUSP00000031040 (fasta)

Gene Model

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

AlphaFold

Q91YL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031040
AA Change: M357K

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: M357K

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: M271K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: M271K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	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
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
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'- CTGAGTACCAGCTACATTTCTCA -3'
(R):5'- GTGGTACTCTTAAATCCATGTTGG -3'

Sequencing Primer
(F):5'- TATCCTCTGCAAAAGCACTAAGTGG -3'
(R):5'- GGCTACATAGTGAGTTTCAGCAC -3'

Posted On

2020-01-23