Mutagenetix > Incidental Mutation

Incidental Mutation 'R7694:Tmcc1'

593541

Institutional Source

Beutler Lab

Gene Symbol

Tmcc1

Ensembl Gene

ENSMUSG00000030126

Gene Name

transmembrane and coiled coil domains 1

Synonyms

3632431M01Rik

MMRRC Submission

045757-MU

Accession Numbers

Essential gene?

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

Stock #

R7694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115995572-116170447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116110805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 159 (P159S)

Gene Model

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

AlphaFold

Q69ZZ6

Predicted Effect

SMART Domains

Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: P159S

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: P163S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: P163S

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

SMART Domains

Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126
AA Change: P20S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173031
AA Change: P163S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134148
Gene: ENSMUSG00000030126
AA Change: P163S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173110
AA Change: P163S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
AA Change: P163S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	G	17: 14,109,144 (GRCm39)	S1571A	probably damaging	Het
Agbl1	C	A	7: 76,348,513 (GRCm39)	A870D	unknown	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Ankrd55	T	C	13: 112,504,498 (GRCm39)	Y415H	probably damaging	Het
Cd69	G	A	6: 129,247,008 (GRCm39)	R111C	possibly damaging	Het
Cdh26	A	T	2: 178,101,896 (GRCm39)	T172S	probably damaging	Het
Cflar	T	A	1: 58,791,966 (GRCm39)	V423E		Het
Cgrrf1	A	C	14: 47,091,415 (GRCm39)	Q313P	possibly damaging	Het
Chga	G	A	12: 102,527,606 (GRCm39)	A87T	probably benign	Het
Chrna4	T	A	2: 180,660,386 (GRCm39)	D102V		Het
Cpvl	A	T	6: 53,909,502 (GRCm39)	Y211*	probably null	Het
Cyp26a1	G	A	19: 37,689,512 (GRCm39)	D403N	possibly damaging	Het
Dchs2	T	C	3: 83,036,789 (GRCm39)	L512P	probably damaging	Het
Dll3	A	C	7: 28,001,170 (GRCm39)	M1R	probably null	Het
Dnah12	A	G	14: 26,503,337 (GRCm39)	T1564A	probably damaging	Het
Efhb	A	G	17: 53,707,836 (GRCm39)	S776P	probably damaging	Het
Eml5	T	C	12: 98,758,822 (GRCm39)	S1831G	probably damaging	Het
Fat1	G	T	8: 45,441,967 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,632,375 (GRCm39)	K1255E	probably benign	Het
Fitm2	C	T	2: 163,311,892 (GRCm39)	C107Y	probably damaging	Het
Gdpd4	T	C	7: 97,621,146 (GRCm39)	V153A	probably benign	Het
Ggnbp2	A	G	11: 84,751,539 (GRCm39)	V87A	possibly damaging	Het
Glb1l	G	T	1: 75,178,436 (GRCm39)	A334E	probably damaging	Het
Gnas	T	G	2: 174,142,005 (GRCm39)	L784R	probably damaging	Het
Gtf2i	C	T	5: 134,311,659 (GRCm39)	E223K	probably damaging	Het
H2-M10.5	T	C	17: 37,084,641 (GRCm39)	Y122H	probably damaging	Het
Hikeshi	G	A	7: 89,579,554 (GRCm39)	Q6*	probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Irak2	A	C	6: 113,667,859 (GRCm39)	D528A	probably damaging	Het
Lcn2	A	G	2: 32,278,042 (GRCm39)	C17R	unknown	Het
Lcp2	G	T	11: 34,000,924 (GRCm39)	V36L	probably benign	Het
Lin7c	T	C	2: 109,726,617 (GRCm39)	S89P	probably benign	Het
Lrrc37a	C	T	11: 103,395,204 (GRCm39)	A74T	probably benign	Het
Lrrtm3	T	A	10: 63,923,818 (GRCm39)	M450L	probably benign	Het
Lsm11	C	T	11: 45,824,768 (GRCm39)	R253Q	probably benign	Het
Map9	A	T	3: 82,266,290 (GRCm39)		probably benign	Het
Mmp2	T	A	8: 93,558,358 (GRCm39)	D142E	possibly damaging	Het
Nrn1l	A	T	8: 106,621,430 (GRCm39)	T127S	probably damaging	Het
Or14c46	T	C	7: 85,918,983 (GRCm39)	T5A	probably damaging	Het
Pelp1	G	A	11: 70,285,585 (GRCm39)	T761I	probably damaging	Het
Pmm2	T	A	16: 8,463,254 (GRCm39)	V63E	probably damaging	Het
Ptprb	T	A	10: 116,208,853 (GRCm39)	L1942H	probably damaging	Het
Ptprk	T	A	10: 28,465,366 (GRCm39)	C1350S	possibly damaging	Het
Rnf44	A	G	13: 54,829,841 (GRCm39)	V381A	probably damaging	Het
Robo3	G	A	9: 37,329,816 (GRCm39)	P1167S	probably benign	Het
Ryk	A	G	9: 102,775,979 (GRCm39)	E489G	probably damaging	Het
Satb2	T	A	1: 56,910,683 (GRCm39)	I321L	probably benign	Het
Sh2b1	A	T	7: 126,066,929 (GRCm39)	V655E	probably benign	Het
Slc16a12	G	A	19: 34,648,035 (GRCm39)	T486M	probably damaging	Het
Slc34a1	G	T	13: 55,561,221 (GRCm39)	R562L	probably benign	Het
Slc4a9	A	G	18: 36,669,902 (GRCm39)	E779G	probably damaging	Het
Strc	C	A	2: 121,207,577 (GRCm39)	C598F	probably damaging	Het
Stxbp6	A	T	12: 44,948,810 (GRCm39)	F100I	probably damaging	Het
Tap2	A	G	17: 34,424,671 (GRCm39)	T135A	probably benign	Het
Tmem106b	T	A	6: 13,078,105 (GRCm39)	M100K	probably benign	Het
Ttn	T	A	2: 76,578,039 (GRCm39)	T24285S	probably damaging	Het
Vmn1r116	G	A	7: 20,606,337 (GRCm39)	V53M	possibly damaging	Het
Zar1	A	T	5: 72,738,193 (GRCm39)	S70T	probably benign	Het
Zfp235	C	T	7: 23,841,525 (GRCm39)	T648M	probably benign	Het
Zfp937	C	T	2: 150,081,268 (GRCm39)	H433Y	probably damaging	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
R1573:Tmcc1	UTSW	6	116,110,924 (GRCm39)	missense	probably damaging	0.99
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
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'- AAGCACTGGAATTACAAGTGC -3'
(R):5'- TCGTGTTCTCCAGCAGATCC -3'

Sequencing Primer
(F):5'- CACTGGAATTACAAGTGCATAGC -3'
(R):5'- TGTTCTCCAGCAGATCCGAGTG -3'

Posted On

2019-11-12