Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Tmtc4'

499998

Institutional Source

Beutler Lab

Gene Symbol

Tmtc4

Ensembl Gene

ENSMUSG00000041594

Gene Name

transmembrane and tetratricopeptide repeat containing 4

Synonyms

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122918971-122984035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122963298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 194 (T194A)

Ref Sequence

ENSEMBL: ENSMUSP00000116480 (fasta)

Gene Model

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

AlphaFold

Q8BG19

Predicted Effect

probably benign
Transcript: ENSMUST00000037726
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: T194A

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: ENSMUST00000126867
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: T194A

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

probably benign
Transcript: ENSMUST00000143189
AA Change: T194A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: T194A

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 benign
Transcript: ENSMUST00000148661
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: T194A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
R0344:Tmtc4	UTSW	14	122978160	missense	probably damaging	1.00
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
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
R9581:Tmtc4	UTSW	14	122950586	missense	probably benign
R9592:Tmtc4	UTSW	14	122933403	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAGTGCTTCAGTAATTCTGC -3'
(R):5'- GCTTGTTTCATGTCCGAGGTAC -3'

Sequencing Primer
(F):5'- GTGCTTCAGTAATTCTGCTCAGGAC -3'
(R):5'- GTCCGAGGTACATTTTGTATATCCAG -3'

Posted On

2017-11-30