Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Cwh43'

235799

Institutional Source

Beutler Lab

Gene Symbol

Cwh43

Ensembl Gene

ENSMUSG00000029154

Gene Name

cell wall biogenesis 43 C-terminal homolog

Synonyms

C130090K23Rik

MMRRC Submission

040139-MU

Accession Numbers

Essential gene?

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

Stock #

R2136 (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 73572397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 212 (I212V)

Ref Sequence

ENSEMBL: ENSMUSP00000069563 (fasta)

Gene Model

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

AlphaFold

Q91YL7

Predicted Effect

probably benign
Transcript: ENSMUST00000031040
AA Change: I212V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: I212V

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 benign
Transcript: ENSMUST00000065543
AA Change: I212V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: I212V

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Acap3	T	C	4: 155,981,369 (GRCm39)	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Grsf1	A	G	5: 88,820,517 (GRCm39)	V7A	probably benign	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pan2	T	G	10: 128,149,506 (GRCm39)	V522G	possibly damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,898,527 (GRCm39)	I645N	probably damaging	Het
Scfd2	T	C	5: 74,367,028 (GRCm39)	K624R	probably benign	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	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
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
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'- TTCTTAGGGTACAAGCTCCTCC -3'
(R):5'- GGACCTATTCAGCCCTCAGTTC -3'

Sequencing Primer
(F):5'- CTTTCTACAATAGGCTTCTTGAGG -3'
(R):5'- ATTCAGCCCTCAGTTCCCTTC -3'

Posted On

2014-10-01