Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Tmcc1'

170962

Institutional Source

Beutler Lab

Gene Symbol

Tmcc1

Ensembl Gene

ENSMUSG00000030126

Gene Name

transmembrane and coiled coil domains 1

Synonyms

3632431M01Rik

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115995572-116170447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116110924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 123 (S123N)

Ref Sequence

ENSEMBL: ENSMUSP00000134148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088896] [ENSMUST00000173031] [ENSMUST00000173110]

AlphaFold

Q69ZZ6

Predicted Effect

unknown
Transcript: ENSMUST00000032222
AA Change: S119N

SMART Domains

Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: S119N

Domain	Start	End	E-Value	Type
low complexity region	153	164	N/A	INTRINSIC
Pfam:Tmemb_cc2	268	677	9.7e-170	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088896
AA Change: S123N

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: S123N

Domain	Start	End	E-Value	Type
low complexity region	156	167	N/A	INTRINSIC
Pfam:Tmemb_cc2	227	636	2.3e-170	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172909

SMART Domains

Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173031
AA Change: S123N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134148
Gene: ENSMUSG00000030126
AA Change: S123N

Domain	Start	End	E-Value	Type
low complexity region	156	167	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173110
AA Change: S123N

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

SMART Domains

Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
AA Change: S123N

Domain	Start	End	E-Value	Type
low complexity region	156	167	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204637

Meta Mutation Damage Score

0.1544

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	Het

Other mutations in Tmcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Tmcc1	APN	6	116,019,988 (GRCm39)	missense	probably damaging	0.99
IGL01580:Tmcc1	APN	6	116,019,946 (GRCm39)	missense	possibly damaging	0.91
IGL02858:Tmcc1	APN	6	116,110,849 (GRCm39)	missense	probably damaging	0.99
IGL03226:Tmcc1	APN	6	116,110,937 (GRCm39)	missense	probably damaging	0.99
Dominus_dei	UTSW	6	116,111,198 (GRCm39)	nonsense	probably null
FR4976:Tmcc1	UTSW	6	116,170,341 (GRCm39)	start gained	probably benign
IGL02988:Tmcc1	UTSW	6	116,019,889 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Tmcc1	UTSW	6	116,020,417 (GRCm39)	missense
R0522:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R0654:Tmcc1	UTSW	6	116,019,951 (GRCm39)	missense	probably benign	0.03
R0721:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R1392:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84
R1644:Tmcc1	UTSW	6	116,110,826 (GRCm39)	missense	probably damaging	1.00
R2062:Tmcc1	UTSW	6	116,020,019 (GRCm39)	missense	probably benign	0.01
R2065:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2214:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2240:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R2399:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R3683:Tmcc1	UTSW	6	116,019,831 (GRCm39)	frame shift	probably null
R3722:Tmcc1	UTSW	6	116,110,783 (GRCm39)	missense	possibly damaging	0.83
R3926:Tmcc1	UTSW	6	116,019,874 (GRCm39)	missense	probably damaging	1.00
R4082:Tmcc1	UTSW	6	116,020,441 (GRCm39)	missense	probably damaging	1.00
R4155:Tmcc1	UTSW	6	116,110,765 (GRCm39)	missense	probably benign	0.18
R4619:Tmcc1	UTSW	6	116,020,247 (GRCm39)	missense	probably damaging	1.00
R5246:Tmcc1	UTSW	6	116,020,381 (GRCm39)	missense	probably damaging	1.00
R5568:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84
R6364:Tmcc1	UTSW	6	116,020,722 (GRCm39)	start gained	probably benign
R7238:Tmcc1	UTSW	6	116,111,198 (GRCm39)	nonsense	probably null
R7257:Tmcc1	UTSW	6	116,084,299 (GRCm39)	missense	probably benign	0.27
R7603:Tmcc1	UTSW	6	116,020,092 (GRCm39)	nonsense	probably null
R7693:Tmcc1	UTSW	6	116,001,843 (GRCm39)	missense
R7694:Tmcc1	UTSW	6	116,110,805 (GRCm39)	missense
R7698:Tmcc1	UTSW	6	116,020,763 (GRCm39)	nonsense	probably null
R7798:Tmcc1	UTSW	6	116,020,539 (GRCm39)	missense
R8158:Tmcc1	UTSW	6	116,020,435 (GRCm39)	missense
R8808:Tmcc1	UTSW	6	116,111,099 (GRCm39)	missense
R8808:Tmcc1	UTSW	6	116,111,098 (GRCm39)	missense
R9222:Tmcc1	UTSW	6	116,020,049 (GRCm39)	missense
R9369:Tmcc1	UTSW	6	116,111,050 (GRCm39)	missense	probably benign	0.16
R9753:Tmcc1	UTSW	6	115,999,071 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GCAGCACAAGCTATTTCCATCACAG -3'
(R):5'- AGGCATGAAGCCTCCATCTCTCAG -3'

Sequencing Primer
(F):5'- TTTCCATCACAGAAGAGCTGG -3'
(R):5'- CAGTTATATGAGGACCCTGATCCTG -3'

Posted On

2014-04-13