Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Tmem258'

735344

Institutional Source

Beutler Lab

Gene Symbol

Tmem258

Ensembl Gene

ENSMUSG00000036372

Gene Name

transmembrane protein 258

Synonyms

1810006K21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10181566-10185188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10184637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 75 (V75I)

Ref Sequence

ENSEMBL: ENSMUSP00000044751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025651] [ENSMUST00000040372] [ENSMUST00000088013] [ENSMUST00000116542] [ENSMUST00000142241] [ENSMUST00000156291] [ENSMUST00000166412] [ENSMUST00000186056] [ENSMUST00000189897]

AlphaFold

P61166

Predicted Effect

probably benign
Transcript: ENSMUST00000025651

SMART Domains

Protein: ENSMUSP00000025651
Gene: ENSMUSG00000024742

Domain	Start	End	E-Value	Type
XPGN	1	107	2.5e-60	SMART
XPGI	146	218	2.22e-34	SMART
HhH2	220	253	1.41e-13	SMART
low complexity region	354	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040372
AA Change: V75I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044751
Gene: ENSMUSG00000036372
AA Change: V75I

Domain	Start	End	E-Value	Type
Pfam:UPF0197	3	79	3.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088013

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098

Domain	Start	End	E-Value	Type
low complexity region	67	99	N/A	INTRINSIC
low complexity region	177	199	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	285	306	N/A	INTRINSIC
low complexity region	320	346	N/A	INTRINSIC
Pfam:NDT80_PhoG	393	540	7.6e-31	PFAM
Pfam:Peptidase_S74	587	647	5.3e-16	PFAM
Pfam:MRF_C1	667	702	8.3e-26	PFAM
low complexity region	773	784	N/A	INTRINSIC
low complexity region	847	884	N/A	INTRINSIC
Pfam:MRF_C2	977	1111	1.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116542

SMART Domains

Protein: ENSMUSP00000112241
Gene: ENSMUSG00000024742

Domain	Start	End	E-Value	Type
XPGN	1	107	2.5e-60	SMART
XPGI	146	218	2.22e-34	SMART
HhH2	220	253	1.41e-13	SMART
low complexity region	354	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142241

SMART Domains

Protein: ENSMUSP00000119221
Gene: ENSMUSG00000024742

Domain	Start	End	E-Value	Type
XPGN	1	107	2.5e-60	SMART
XPGI	146	218	2.22e-34	SMART
HhH2	220	253	1.41e-13	SMART
low complexity region	354	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156291

SMART Domains

Protein: ENSMUSP00000117246
Gene: ENSMUSG00000024742

Domain	Start	End	E-Value	Type
XPGN	1	107	2.5e-60	SMART
XPGI	146	218	2.22e-34	SMART
HhH2	220	253	1.41e-13	SMART
low complexity region	354	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166412
AA Change: V70I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128883
Gene: ENSMUSG00000036372
AA Change: V70I

Domain	Start	End	E-Value	Type
Pfam:UPF0197	1	74	2.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186056

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098

Domain	Start	End	E-Value	Type
low complexity region	83	104	N/A	INTRINSIC
low complexity region	118	144	N/A	INTRINSIC
Pfam:NDT80_PhoG	191	338	6.9e-28	PFAM
Pfam:Peptidase_S74	385	445	1.2e-12	PFAM
Pfam:MRF_C1	465	500	1.4e-23	PFAM
low complexity region	571	582	N/A	INTRINSIC
low complexity region	672	709	N/A	INTRINSIC
Pfam:MRF_C2	801	936	7e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186854

Predicted Effect

probably benign
Transcript: ENSMUST00000189897

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098

Domain	Start	End	E-Value	Type
low complexity region	67	99	N/A	INTRINSIC
low complexity region	177	199	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
low complexity region	285	306	N/A	INTRINSIC
low complexity region	320	346	N/A	INTRINSIC
Pfam:NDT80_PhoG	393	540	7.6e-31	PFAM
Pfam:Peptidase_S74	587	647	1.1e-15	PFAM
Pfam:MRF_C1	667	702	1.1e-26	PFAM
low complexity region	773	784	N/A	INTRINSIC
low complexity region	847	884	N/A	INTRINSIC
Pfam:MRF_C2	976	1111	5.5e-55	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality while heterozygotes exhibit increased susceptibility to DSS-induced colitis associated with increased endoplasmic reticulum (ER) stress. Homozygous deficiency in colonic organoids results in unresolved ER stress and apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,841,964 (GRCm39)	S52P	unknown	Het
Ank2	A	G	3: 126,752,726 (GRCm39)	M330T	possibly damaging	Het
Ankar	C	T	1: 72,698,340 (GRCm39)	V905I	possibly damaging	Het
Anln	G	T	9: 22,283,518 (GRCm39)	D438E	probably damaging	Het
C1ql3	T	C	2: 13,009,200 (GRCm39)	N215S	probably damaging	Het
Ccdc110	A	G	8: 46,395,626 (GRCm39)	S506G	probably benign	Het
Ccdc87	A	G	19: 4,891,175 (GRCm39)	T556A	probably benign	Het
Cma1	A	T	14: 56,179,186 (GRCm39)	N236K	probably benign	Het
Csmd2	T	C	4: 128,262,986 (GRCm39)	F724S		Het
Cts8	T	C	13: 61,401,136 (GRCm39)	K130R	possibly damaging	Het
Daam1	A	T	12: 71,990,922 (GRCm39)	T179S	unknown	Het
Fancd2os	T	C	6: 113,574,938 (GRCm39)	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,394,866 (GRCm39)	I168N	probably damaging	Het
Gckr	G	A	5: 31,457,368 (GRCm39)	G127D	probably damaging	Het
Gm11444	G	A	11: 85,737,699 (GRCm39)	Q164*	probably null	Het
Gm28042	T	A	2: 119,868,984 (GRCm39)	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,068,722 (GRCm39)	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,499,247 (GRCm39)	H198Q	possibly damaging	Het
Hps6	T	A	19: 45,993,947 (GRCm39)	L628*	probably null	Het
Igha	G	A	12: 113,222,759 (GRCm39)	H221Y		Het
Ighm	A	G	12: 113,382,635 (GRCm39)	S453P		Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Lfng	A	G	5: 140,593,528 (GRCm39)	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,199 (GRCm39)	A172T	probably benign	Het
Lrrc56	A	G	7: 140,787,520 (GRCm39)	T386A	probably benign	Het
Mapkbp1	A	T	2: 119,841,256 (GRCm39)	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrto4	T	A	4: 139,076,381 (GRCm39)	N70I	probably damaging	Het
Mxra8	C	T	4: 155,924,282 (GRCm39)		probably benign	Het
Myo1h	A	G	5: 114,483,997 (GRCm39)	E548G		Het
Ncan	C	T	8: 70,560,751 (GRCm39)	D739N	probably benign	Het
Or2t45	T	C	11: 58,669,595 (GRCm39)	V214A	probably benign	Het
Oxgr1	T	C	14: 120,259,563 (GRCm39)	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,885,088 (GRCm39)	V86E	probably damaging	Het
Pclo	G	A	5: 14,762,629 (GRCm39)	V416M		Het
Phf3	G	T	1: 30,869,872 (GRCm39)	T392K	probably benign	Het
Pkhd1	A	T	1: 20,637,073 (GRCm39)	V379E	probably damaging	Het
Ppfia3	T	C	7: 44,990,539 (GRCm39)	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,729,217 (GRCm39)	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,658,416 (GRCm39)	D384E	probably benign	Het
Rergl	A	G	6: 139,477,761 (GRCm39)	F23L	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sidt2	A	G	9: 45,854,912 (GRCm39)	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,118,066 (GRCm39)	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,107,980 (GRCm39)	D474V	probably damaging	Het
Tenm4	G	A	7: 96,202,685 (GRCm39)	G100D	probably damaging	Het
Tmem91	G	T	7: 25,369,988 (GRCm39)	H95N	probably damaging	Het
Trps1	T	C	15: 50,710,090 (GRCm39)	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,920,680 (GRCm39)	M209K	probably benign	Het
Tspan17	C	A	13: 54,941,092 (GRCm39)	Q124K	probably benign	Het
Uts2b	G	A	16: 27,179,692 (GRCm39)	R105*	probably null	Het
Vmn2r110	T	A	17: 20,803,730 (GRCm39)	T282S	probably benign	Het
Xdh	T	A	17: 74,229,455 (GRCm39)	M333L	probably benign	Het
Zbtb3	A	G	19: 8,781,833 (GRCm39)	E482G	probably damaging	Het

Other mutations in Tmem258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5484:Tmem258	UTSW	19	10,184,689 (GRCm39)	splice site	probably null
R7120:Tmem258	UTSW	19	10,181,602 (GRCm39)	unclassified	probably benign
R8474:Tmem258	UTSW	19	10,184,550 (GRCm39)	missense	probably damaging	0.98
R9766:Tmem258	UTSW	19	10,184,578 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAATCCCTTAGCCTGTTC -3'
(R):5'- CAAAGCTTGAGTGAGCCCTTG -3'

Sequencing Primer
(F):5'- GTTCTTCCCCATGAAAGGTAGTCAG -3'
(R):5'- CTTGAGTGAGCCCTTGAGTACAC -3'

Posted On

2022-11-14