Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Trim12c'

276506

Institutional Source

Beutler Lab

Gene Symbol

Trim12c

Ensembl Gene

ENSMUSG00000057143

Gene Name

tripartite motif-containing 12C

Synonyms

Trim12-2, 9230105E10Rik

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103987961-104002569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103997544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 4 (Q4R)

Ref Sequence

ENSEMBL: ENSMUSP00000116775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059037] [ENSMUST00000130139]

AlphaFold

D3Z3L3

Predicted Effect

probably benign
Transcript: ENSMUST00000059037
AA Change: Q4R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
AA Change: Q4R

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC
Pfam:SPRY	351	493	8.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130139
AA Change: Q4R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
AA Change: Q4R

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Armcx2	A	T	X: 133,707,048 (GRCm39)	V195E	probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Glud1	T	A	14: 34,047,537 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Hrh1	A	G	6: 114,457,880 (GRCm39)	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm39)	S314P	possibly damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably damaging	Het

Other mutations in Trim12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Trim12c	APN	7	103,997,422 (GRCm39)	missense	possibly damaging	0.81
IGL01645:Trim12c	APN	7	103,994,261 (GRCm39)	nonsense	probably null
IGL01737:Trim12c	APN	7	103,997,269 (GRCm39)	missense	probably damaging	1.00
IGL02184:Trim12c	APN	7	103,997,430 (GRCm39)	missense	probably benign	0.00
IGL02309:Trim12c	APN	7	103,994,163 (GRCm39)	missense	possibly damaging	0.72
IGL02323:Trim12c	APN	7	103,997,473 (GRCm39)	missense	probably benign	0.00
IGL02656:Trim12c	APN	7	103,990,410 (GRCm39)	missense	probably damaging	1.00
R0127:Trim12c	UTSW	7	103,990,113 (GRCm39)	splice site	probably null
R0554:Trim12c	UTSW	7	103,994,169 (GRCm39)	missense	probably damaging	0.96
R1480:Trim12c	UTSW	7	103,997,451 (GRCm39)	missense	probably damaging	1.00
R1501:Trim12c	UTSW	7	103,990,095 (GRCm39)	unclassified	probably benign
R2058:Trim12c	UTSW	7	103,997,398 (GRCm39)	missense	possibly damaging	0.81
R2059:Trim12c	UTSW	7	103,997,398 (GRCm39)	missense	possibly damaging	0.81
R3838:Trim12c	UTSW	7	103,990,075 (GRCm39)	unclassified	probably benign
R4896:Trim12c	UTSW	7	103,990,155 (GRCm39)	missense	probably damaging	0.99
R6288:Trim12c	UTSW	7	103,995,936 (GRCm39)	missense	probably benign	0.19
R6522:Trim12c	UTSW	7	103,997,531 (GRCm39)	missense	probably benign	0.38
R6562:Trim12c	UTSW	7	103,994,341 (GRCm39)	splice site	probably null
R6801:Trim12c	UTSW	7	103,997,337 (GRCm39)	missense	probably damaging	1.00
R7016:Trim12c	UTSW	7	103,997,413 (GRCm39)	missense
R7811:Trim12c	UTSW	7	103,990,469 (GRCm39)	missense	unknown
R8076:Trim12c	UTSW	7	103,990,037 (GRCm39)	missense	unknown
R8147:Trim12c	UTSW	7	103,991,165 (GRCm39)	missense	unknown
R8680:Trim12c	UTSW	7	103,997,271 (GRCm39)	missense
R9295:Trim12c	UTSW	7	103,990,391 (GRCm39)	missense	unknown
R9296:Trim12c	UTSW	7	103,994,185 (GRCm39)	missense
X0062:Trim12c	UTSW	7	103,995,887 (GRCm39)	missense	probably benign	0.13
Z1176:Trim12c	UTSW	7	103,990,343 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTGGTAACTAAGTCGGCACAC -3'
(R):5'- TGGTCCAGAAGGCTCAAGAG -3'

Sequencing Primer
(F):5'- TAACTAAGTCGGCACACAGGGC -3'
(R):5'- TCCAGAAGGCTCAAGAGAACAG -3'

Posted On

2015-04-06