Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Tmtc4'

26461

Institutional Source

Beutler Lab

Gene Symbol

Tmtc4

Ensembl Gene

ENSMUSG00000041594

Gene Name

transmembrane and tetratricopeptide repeat containing 4

Synonyms

MMRRC Submission

038551-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122918971-122984035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122978160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 25 (V25M)

Ref Sequence

ENSEMBL: ENSMUSP00000116480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037726] [ENSMUST00000126867] [ENSMUST00000128969] [ENSMUST00000143189] [ENSMUST00000148661]

AlphaFold

Q8BG19

Predicted Effect

probably damaging
Transcript: ENSMUST00000037726
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: V25M

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	290	369	3e-35	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126867
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: V25M

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	290	369	3e-35	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141478

Predicted Effect

probably damaging
Transcript: ENSMUST00000143189
AA Change: V25M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: V25M

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	100	122	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC
transmembrane domain	200	219	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000148661
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: V25M

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	191	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC
transmembrane domain	227	249	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
Pfam:DUF1736	292	366	4.4e-36	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC
TPR	482	515	2.49e-5	SMART
TPR	516	549	9.03e-3	SMART
TPR	550	583	2.49e-5	SMART
TPR	584	617	2.63e-4	SMART
TPR	618	651	5.78e-1	SMART
TPR	652	685	2.19e-1	SMART
TPR	686	719	1.37e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228552

Meta Mutation Damage Score

0.1337

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,820,301	C29*	probably null	Het
Abca4	G	A	3: 122,083,964	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,836,933		probably benign	Het
Abr	A	T	11: 76,479,044	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,865,595		probably null	Het
Aff3	A	T	1: 38,203,932	S936T	probably benign	Het
Agap3	T	C	5: 24,451,202		probably benign	Het
Ahrr	T	A	13: 74,214,586	S393C	probably damaging	Het
Amfr	T	C	8: 93,987,370		probably null	Het
Ankrd26	C	A	6: 118,507,637		probably null	Het
Asxl3	G	A	18: 22,517,611	V886I	probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
Atp5s	T	C	12: 69,740,889		probably benign	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,850,772	D162G	probably benign	Het
Camkk2	C	T	5: 122,763,877	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Catsperg1	A	T	7: 29,195,540	V544E	probably damaging	Het
Cdc27	G	A	11: 104,526,991		probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gdap2	G	A	3: 100,178,256	G165S	probably damaging	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Gns	A	G	10: 121,383,423	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,191,249	T22M	probably damaging	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Inpp1	A	T	1: 52,799,354	F45L	probably damaging	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,118,147	K485E	probably benign	Het
Jak2	G	A	19: 29,283,629	V342I	probably damaging	Het
Kptn	C	A	7: 16,125,741	Q297K	probably damaging	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nup133	A	G	8: 123,917,446	V727A	possibly damaging	Het
Oas2	T	G	5: 120,743,087	E313A	probably damaging	Het
Olfr1031	T	A	2: 85,992,382	C188*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr487	A	T	7: 108,211,742	Y262*	probably null	Het
Olfr691	C	A	7: 105,337,607	M36I	probably benign	Het
Olfr961	G	A	9: 39,647,350	C208Y	probably damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Phldb1	C	A	9: 44,701,667	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,566,266	E449*	probably null	Het
Pstpip1	T	C	9: 56,126,645	V301A	probably benign	Het
Ptdss1	G	A	13: 66,933,572	R22H	probably damaging	Het
Ptprq	A	G	10: 107,705,582	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,346,794	V1309E	possibly damaging	Het
Rere	T	C	4: 150,610,981		probably benign	Het
Sbk3	T	A	7: 4,967,405	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,505,010	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,326,131		probably benign	Het
Sik3	C	A	9: 46,208,811	Q683K	probably damaging	Het
Slc24a5	A	G	2: 125,085,701	I307V	probably benign	Het
Smg6	A	G	11: 74,929,821	D306G	probably damaging	Het
Snx13	G	A	12: 35,086,900	W120*	probably null	Het
Snx5	A	G	2: 144,257,208		probably benign	Het
Srsf5	T	C	12: 80,947,524	S76P	probably benign	Het
Stard6	A	G	18: 70,496,115	D31G	probably damaging	Het
Taf3	A	G	2: 9,951,898	M333T	probably benign	Het
Taf6	T	G	5: 138,181,147	I377L	probably benign	Het
Taf8	G	T	17: 47,493,580	N252K	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Tmem246	T	C	4: 49,586,566	T201A	probably benign	Het
Topbp1	T	A	9: 103,308,733		probably benign	Het
Topbp1	T	A	9: 103,328,687	D841E	probably damaging	Het
Ttn	A	T	2: 76,712,489	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,930,785	E928G	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,903,618	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,479,937	E87K	probably damaging	Het
Zfp229	A	T	17: 21,745,841	M351L	probably benign	Het

Other mutations in Tmtc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Tmtc4	APN	14	122925954	splice site	probably benign
IGL01408:Tmtc4	APN	14	122925954	splice site	probably benign
IGL01487:Tmtc4	APN	14	122926031	missense	probably benign	0.25
IGL01694:Tmtc4	APN	14	122973212	missense	possibly damaging	0.92
IGL01934:Tmtc4	APN	14	122927635	nonsense	probably null
IGL02456:Tmtc4	APN	14	122925962	critical splice donor site	probably null
IGL03116:Tmtc4	APN	14	122927632	missense	probably benign	0.02
IGL03326:Tmtc4	APN	14	122945540	missense	probably damaging	0.99
PIT4403001:Tmtc4	UTSW	14	122973229	missense	probably benign	0.01
R0630:Tmtc4	UTSW	14	122926090	splice site	probably benign
R0849:Tmtc4	UTSW	14	122945554	missense	possibly damaging	0.62
R1129:Tmtc4	UTSW	14	122943153	critical splice donor site	probably null
R1601:Tmtc4	UTSW	14	122944826	missense	probably benign	0.01
R1835:Tmtc4	UTSW	14	122941988	critical splice acceptor site	probably null
R1966:Tmtc4	UTSW	14	122927599	missense	probably benign	0.31
R2024:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2025:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2026:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2027:Tmtc4	UTSW	14	122921265	missense	probably benign	0.02
R2256:Tmtc4	UTSW	14	122941408	missense	probably benign	0.09
R2439:Tmtc4	UTSW	14	122971903	missense	probably damaging	1.00
R3001:Tmtc4	UTSW	14	122932818	critical splice donor site	probably null
R3002:Tmtc4	UTSW	14	122932818	critical splice donor site	probably null
R3894:Tmtc4	UTSW	14	122921319	splice site	probably null
R4561:Tmtc4	UTSW	14	122963298	missense	probably benign	0.21
R4926:Tmtc4	UTSW	14	122973206	missense	probably damaging	1.00
R5000:Tmtc4	UTSW	14	122933331	missense	possibly damaging	0.46
R5024:Tmtc4	UTSW	14	122941302	splice site	probably null
R5104:Tmtc4	UTSW	14	122932845	missense	probably damaging	0.99
R5200:Tmtc4	UTSW	14	122945557	missense	probably benign	0.05
R5536:Tmtc4	UTSW	14	122932879	missense	probably benign	0.09
R5677:Tmtc4	UTSW	14	122950499	missense	probably damaging	1.00
R5768:Tmtc4	UTSW	14	122933153	missense	possibly damaging	0.91
R6467:Tmtc4	UTSW	14	122925979	missense	possibly damaging	0.80
R7317:Tmtc4	UTSW	14	122978181	missense	probably benign	0.00
R7516:Tmtc4	UTSW	14	122943323	missense	possibly damaging	0.68
R7539:Tmtc4	UTSW	14	122978289	splice site	probably null
R7584:Tmtc4	UTSW	14	122978151	missense	probably benign	0.01
R7821:Tmtc4	UTSW	14	122971877	missense	probably benign
R7903:Tmtc4	UTSW	14	122927648	missense	probably benign	0.00
R8969:Tmtc4	UTSW	14	122941812	splice site	probably benign
R9239:Tmtc4	UTSW	14	122927666	missense	possibly damaging	0.81
R9381:Tmtc4	UTSW	14	122926029	missense	probably benign	0.00
R9513:Tmtc4	UTSW	14	122971792	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGACTTGCAGTCTTAGCAGAGGTATG -3'
(R):5'- GGCTTGCTTTAGGTAATGAGGTCCAC -3'

Sequencing Primer
(F):5'- GCAATGCAGTTAGGAGATCATAC -3'
(R):5'- GAGGTCCACTGCAAAATTGTACTTG -3'

Posted On

2013-04-16