Mutagenetix > Incidental Mutations

Incidental Mutation 'R5694:Trim12a'

443820

Institutional Source

Beutler Lab

Gene Symbol

Trim12a

Ensembl Gene

ENSMUSG00000066258

Gene Name

tripartite motif-containing 12A

Synonyms

2310043C01Rik, Trim12

MMRRC Submission

043325-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104299894-104315466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104307243 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 30 (C30F)

Ref Sequence

ENSEMBL: ENSMUSP00000102452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070943] [ENSMUST00000106837] [ENSMUST00000106839]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070943
AA Change: C30F

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

SMART Domains

Protein: ENSMUSP00000065008
Gene: ENSMUSG00000066258
AA Change: C30F

Domain	Start	End	E-Value	Type
RING	15	58	7.8e-7	SMART
BBOX	91	132	9.01e-12	SMART
low complexity region	196	209	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106837
AA Change: C30F

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

SMART Domains

Protein: ENSMUSP00000102450
Gene: ENSMUSG00000066258
AA Change: C30F

Domain	Start	End	E-Value	Type
RING	15	58	7.8e-7	SMART
BBOX	91	132	9.01e-12	SMART
coiled coil region	140	200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106839
AA Change: C30F

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

SMART Domains

Protein: ENSMUSP00000102452
Gene: ENSMUSG00000066258
AA Change: C30F

Domain	Start	End	E-Value	Type
RING	15	58	7.8e-7	SMART
BBOX	91	132	9.01e-12	SMART
low complexity region	196	209	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134564

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,600,947	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,395,718		probably benign	Het
Adamts14	A	T	10: 61,229,652	M356K	probably benign	Het
Adamtsl2	A	G	2: 27,081,724	H7R	probably benign	Het
Angptl2	T	C	2: 33,228,616	V134A	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Astn2	T	C	4: 65,950,138	D488G	probably damaging	Het
Cat	A	T	2: 103,472,994	V146E	probably damaging	Het
Dmxl1	T	C	18: 49,894,257	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,188,875	D15A	probably benign	Het
Epha10	C	T	4: 124,902,653	A385V	unknown	Het
Erg	C	A	16: 95,361,031	E388D	probably benign	Het
Fam126a	C	A	5: 23,991,796	L31F	probably damaging	Het
Fbxo10	T	A	4: 45,035,970	I931F	probably damaging	Het
Frem1	A	G	4: 82,994,116	L673P	probably damaging	Het
Gm4922	A	C	10: 18,784,287	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,414,486	D153E	probably benign	Het
Htr7	T	C	19: 36,057,121	M45V	probably benign	Het
Igkv4-51	C	T	6: 69,681,927	V5M	probably damaging	Het
Ints7	G	A	1: 191,586,618	E156K	probably damaging	Het
Map3k21	A	G	8: 125,944,768	T932A	probably benign	Het
Mapk1	T	G	16: 17,018,469	D160E	probably benign	Het
Mast4	A	T	13: 102,774,193	Y479*	probably null	Het
Meig1	T	A	2: 3,411,962	K7N	probably damaging	Het
Mthfd1l	T	A	10: 4,035,239	D548E	possibly damaging	Het
Myo16	A	G	8: 10,569,606	R1386G	probably benign	Het
Nphs2	T	C	1: 156,326,037	S353P	probably benign	Het
Olfr533	T	C	7: 140,466,731	F177L	probably benign	Het
Olfr906	T	A	9: 38,488,236	I69K	probably damaging	Het
Pcdha9	G	T	18: 36,998,372	V165L	probably benign	Het
Pde3a	T	A	6: 141,250,502	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,125	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Rab44	T	C	17: 29,140,500	L554P	probably damaging	Het
Rab44	T	A	17: 29,145,966	M645K	unknown	Het
Rnf222	A	G	11: 68,892,897	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,918,941	S522P	probably benign	Het
Serinc5	A	G	13: 92,688,794	I244V	probably benign	Het
Serpinb10	A	T	1: 107,535,457		probably null	Het
Siglech	T	A	7: 55,768,656	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,484,127	I790L	probably benign	Het
Sos2	C	A	12: 69,590,915	R1007S	probably damaging	Het
Stk4	C	T	2: 164,100,564	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,184,964	L366H	probably damaging	Het
Tor4a	T	C	2: 25,194,920	T324A	probably benign	Het
Ttll3	G	A	6: 113,399,708	V350M	probably damaging	Het
Uggt1	A	T	1: 36,179,656	D63E	probably damaging	Het
Unc5b	G	A	10: 60,773,747	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Wls	A	C	3: 159,839,987	I16L	probably benign	Het
Zfp101	T	C	17: 33,380,945	I612M	probably benign	Het
Zfp677	C	A	17: 21,397,759	D359E	probably damaging	Het

Other mutations in Trim12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Trim12a	APN	7	104306995	missense	probably benign	0.37
IGL01866:Trim12a	APN	7	104304153	splice site	probably benign
IGL02522:Trim12a	APN	7	104300831	splice site	probably null
R0900:Trim12a	UTSW	7	104304262	missense	probably benign	0.00
R1673:Trim12a	UTSW	7	104306057	missense	possibly damaging	0.93
R1856:Trim12a	UTSW	7	104300857	missense	probably benign	0.20
R1928:Trim12a	UTSW	7	104307124	missense	probably damaging	1.00
R2187:Trim12a	UTSW	7	104304192	missense	probably damaging	0.98
R2391:Trim12a	UTSW	7	104306931	missense	probably damaging	0.99
R3124:Trim12a	UTSW	7	104300856	missense	probably benign	0.37
R3808:Trim12a	UTSW	7	104306994	missense	probably benign	0.05
R4409:Trim12a	UTSW	7	104306994	missense	probably benign	0.05
R4951:Trim12a	UTSW	7	104304358	missense	possibly damaging	0.90
R5325:Trim12a	UTSW	7	104304206	missense	probably damaging	1.00
R6376:Trim12a	UTSW	7	104306034	missense	probably benign	0.03
R7002:Trim12a	UTSW	7	104304176	missense	possibly damaging	0.92
R7443:Trim12a	UTSW	7	104300842	missense	probably damaging	0.99
R7980:Trim12a	UTSW	7	104304128	missense	probably benign	0.36
R8284:Trim12a	UTSW	7	104306075	missense	probably damaging	1.00
R8412:Trim12a	UTSW	7	104304337	missense	possibly damaging	0.71
R8509:Trim12a	UTSW	7	104306027	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCCATCATGTCCTTCCTAC -3'
(R):5'- CCCGTTTCACCATCCCAATA -3'

Sequencing Primer
(F):5'- CAGAAGAGCTGGAGTTTCTTTCC -3'
(R):5'- TAACATAGGCACCTGAGCAG -3'

Posted On

2016-11-09