Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Cwh43'

675858

Institutional Source

Beutler Lab

Gene Symbol

Cwh43

Ensembl Gene

ENSMUSG00000029154

Gene Name

cell wall biogenesis 43 C-terminal homolog

Synonyms

C130090K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73406075-73453435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73441359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 640 (M640I)

Ref Sequence

ENSEMBL: ENSMUSP00000031040 (fasta)

Gene Model

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

AlphaFold

Q91YL7

Predicted Effect

probably benign
Transcript: ENSMUST00000031040
AA Change: M640I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: M640I

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: M554I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: M554I

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Cwh43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Cwh43	APN	5	73421489	missense	possibly damaging	0.93
IGL02225:Cwh43	APN	5	73421567	missense	probably damaging	1.00
R0115:Cwh43	UTSW	5	73418027	missense	probably damaging	1.00
R0423:Cwh43	UTSW	5	73416742	missense	probably benign	0.00
R0481:Cwh43	UTSW	5	73418027	missense	probably damaging	1.00
R0786:Cwh43	UTSW	5	73408183	nonsense	probably null
R1635:Cwh43	UTSW	5	73434310	missense	probably damaging	1.00
R1729:Cwh43	UTSW	5	73408218	missense	probably damaging	0.99
R1784:Cwh43	UTSW	5	73408218	missense	probably damaging	0.99
R1927:Cwh43	UTSW	5	73453074	missense	probably benign	0.27
R2070:Cwh43	UTSW	5	73421517	missense	probably damaging	1.00
R2104:Cwh43	UTSW	5	73421530	missense	possibly damaging	0.93
R2136:Cwh43	UTSW	5	73415054	missense	probably benign	0.01
R2517:Cwh43	UTSW	5	73421543	missense	probably benign	0.04
R2964:Cwh43	UTSW	5	73408336	splice site	probably benign
R3713:Cwh43	UTSW	5	73438492	missense	probably damaging	0.99
R4291:Cwh43	UTSW	5	73411932	missense	probably benign	0.35
R4333:Cwh43	UTSW	5	73441379	missense	probably damaging	0.99
R4869:Cwh43	UTSW	5	73428673	critical splice donor site	probably null
R5071:Cwh43	UTSW	5	73423913	critical splice acceptor site	probably null
R5309:Cwh43	UTSW	5	73416767	missense	probably benign
R5451:Cwh43	UTSW	5	73431913	missense	probably benign	0.14
R5471:Cwh43	UTSW	5	73408231	nonsense	probably null
R5601:Cwh43	UTSW	5	73417940	splice site	probably null
R5652:Cwh43	UTSW	5	73418141	missense	probably damaging	0.99
R5820:Cwh43	UTSW	5	73428632	nonsense	probably null
R5823:Cwh43	UTSW	5	73411870	missense	probably benign	0.27
R6351:Cwh43	UTSW	5	73411905	missense	possibly damaging	0.55
R7467:Cwh43	UTSW	5	73411968	missense	probably damaging	0.99
R7583:Cwh43	UTSW	5	73434289	missense	probably benign	0.00
R7788:Cwh43	UTSW	5	73415034	missense	probably damaging	1.00
R8070:Cwh43	UTSW	5	73421463	missense	possibly damaging	0.64
R8282:Cwh43	UTSW	5	73434229	missense	probably damaging	0.97
R8471:Cwh43	UTSW	5	73434301	missense	probably damaging	1.00
R9462:Cwh43	UTSW	5	73434352	missense	probably benign	0.00
R9638:Cwh43	UTSW	5	73408143	missense	possibly damaging	0.91
R9651:Cwh43	UTSW	5	73414997	missense	probably benign	0.00
R9652:Cwh43	UTSW	5	73414997	missense	probably benign	0.00
R9660:Cwh43	UTSW	5	73408286	missense	possibly damaging	0.74
R9728:Cwh43	UTSW	5	73408286	missense	possibly damaging	0.74
Z1177:Cwh43	UTSW	5	73430470	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTAATTCGGAAGGTGCTAGC -3'
(R):5'- TTGAAATGAGCCTCTAGAATCTACCAC -3'

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

Posted On

2021-07-15