Mutagenetix > Incidental Mutation

Incidental Mutation 'R5694:Trim12a'

443820

Institutional Source

Beutler Lab

Gene Symbol

Trim12a

Ensembl Gene

ENSMUSG00000066258

Gene Name

tripartite motif-containing 12A

Synonyms

Trim12, 2310043C01Rik

MMRRC Submission

043325-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103949101-103964673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103956450 bp (GRCm39)

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]

AlphaFold

Q99PQ1

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: 142,546,673 (GRCm39)	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,384,157 (GRCm39)		probably benign	Het
Adamts14	A	T	10: 61,065,431 (GRCm39)	M356K	probably benign	Het
Adamtsl2	A	G	2: 26,971,736 (GRCm39)	H7R	probably benign	Het
Angptl2	T	C	2: 33,118,628 (GRCm39)	V134A	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Astn2	T	C	4: 65,868,375 (GRCm39)	D488G	probably damaging	Het
Cat	A	T	2: 103,303,339 (GRCm39)	V146E	probably damaging	Het
Dmxl1	T	C	18: 50,027,324 (GRCm39)	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,079,701 (GRCm39)	D15A	probably benign	Het
Epha10	C	T	4: 124,796,446 (GRCm39)	A385V	unknown	Het
Erg	C	A	16: 95,161,890 (GRCm39)	E388D	probably benign	Het
Fbxo10	T	A	4: 45,035,970 (GRCm39)	I931F	probably damaging	Het
Frem1	A	G	4: 82,912,353 (GRCm39)	L673P	probably damaging	Het
Gm4922	A	C	10: 18,660,035 (GRCm39)	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,250,348 (GRCm39)	D153E	probably benign	Het
Htr7	T	C	19: 36,034,521 (GRCm39)	M45V	probably benign	Het
Hycc1	C	A	5: 24,196,794 (GRCm39)	L31F	probably damaging	Het
Igkv4-51	C	T	6: 69,658,911 (GRCm39)	V5M	probably damaging	Het
Ints7	G	A	1: 191,318,730 (GRCm39)	E156K	probably damaging	Het
Map3k21	A	G	8: 126,671,507 (GRCm39)	T932A	probably benign	Het
Mapk1	T	G	16: 16,836,333 (GRCm39)	D160E	probably benign	Het
Mast4	A	T	13: 102,910,701 (GRCm39)	Y479*	probably null	Het
Meig1	T	A	2: 3,412,999 (GRCm39)	K7N	probably damaging	Het
Mthfd1l	T	A	10: 3,985,239 (GRCm39)	D548E	possibly damaging	Het
Myo16	A	G	8: 10,619,606 (GRCm39)	R1386G	probably benign	Het
Nphs2	T	C	1: 156,153,607 (GRCm39)	S353P	probably benign	Het
Or12j4	T	C	7: 140,046,644 (GRCm39)	F177L	probably benign	Het
Or8b1	T	A	9: 38,399,532 (GRCm39)	I69K	probably damaging	Het
Pcdha9	G	T	18: 37,131,425 (GRCm39)	V165L	probably benign	Het
Pde3a	T	A	6: 141,196,228 (GRCm39)	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,124 (GRCm39)	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rab44	T	A	17: 29,364,940 (GRCm39)	M645K	unknown	Het
Rab44	T	C	17: 29,359,474 (GRCm39)	L554P	probably damaging	Het
Rnf222	A	G	11: 68,783,723 (GRCm39)	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,846,663 (GRCm39)	S522P	probably benign	Het
Serinc5	A	G	13: 92,825,302 (GRCm39)	I244V	probably benign	Het
Serpinb10	A	T	1: 107,463,187 (GRCm39)		probably null	Het
Siglech	T	A	7: 55,418,404 (GRCm39)	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,319,996 (GRCm39)	I790L	probably benign	Het
Sos2	C	A	12: 69,637,689 (GRCm39)	R1007S	probably damaging	Het
Stk4	C	T	2: 163,942,484 (GRCm39)	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,234,963 (GRCm39)	L366H	probably damaging	Het
Tor4a	T	C	2: 25,084,932 (GRCm39)	T324A	probably benign	Het
Ttll3	G	A	6: 113,376,669 (GRCm39)	V350M	probably damaging	Het
Uggt1	A	T	1: 36,218,737 (GRCm39)	D63E	probably damaging	Het
Unc5b	G	A	10: 60,609,526 (GRCm39)	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	A	C	3: 159,545,624 (GRCm39)	I16L	probably benign	Het
Zfp101	T	C	17: 33,599,919 (GRCm39)	I612M	probably benign	Het
Zfp677	C	A	17: 21,618,021 (GRCm39)	D359E	probably damaging	Het

Other mutations in Trim12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Trim12a	APN	7	103,956,202 (GRCm39)	missense	probably benign	0.37
IGL01866:Trim12a	APN	7	103,953,360 (GRCm39)	splice site	probably benign
IGL02522:Trim12a	APN	7	103,950,038 (GRCm39)	splice site	probably null
R0900:Trim12a	UTSW	7	103,953,469 (GRCm39)	missense	probably benign	0.00
R1673:Trim12a	UTSW	7	103,955,264 (GRCm39)	missense	possibly damaging	0.93
R1856:Trim12a	UTSW	7	103,950,064 (GRCm39)	missense	probably benign	0.20
R1928:Trim12a	UTSW	7	103,956,331 (GRCm39)	missense	probably damaging	1.00
R2187:Trim12a	UTSW	7	103,953,399 (GRCm39)	missense	probably damaging	0.98
R2391:Trim12a	UTSW	7	103,956,138 (GRCm39)	missense	probably damaging	0.99
R3124:Trim12a	UTSW	7	103,950,063 (GRCm39)	missense	probably benign	0.37
R3808:Trim12a	UTSW	7	103,956,201 (GRCm39)	missense	probably benign	0.05
R4409:Trim12a	UTSW	7	103,956,201 (GRCm39)	missense	probably benign	0.05
R4951:Trim12a	UTSW	7	103,953,565 (GRCm39)	missense	possibly damaging	0.90
R5325:Trim12a	UTSW	7	103,953,413 (GRCm39)	missense	probably damaging	1.00
R6376:Trim12a	UTSW	7	103,955,241 (GRCm39)	missense	probably benign	0.03
R7002:Trim12a	UTSW	7	103,953,383 (GRCm39)	missense	possibly damaging	0.92
R7443:Trim12a	UTSW	7	103,950,049 (GRCm39)	missense	probably damaging	0.99
R7980:Trim12a	UTSW	7	103,953,335 (GRCm39)	missense	probably benign	0.36
R8284:Trim12a	UTSW	7	103,955,282 (GRCm39)	missense	probably damaging	1.00
R8412:Trim12a	UTSW	7	103,953,544 (GRCm39)	missense	possibly damaging	0.71
R8509:Trim12a	UTSW	7	103,955,234 (GRCm39)	missense	probably benign	0.00
R8995:Trim12a	UTSW	7	103,953,532 (GRCm39)	missense	probably benign	0.04
R9509:Trim12a	UTSW	7	103,953,551 (GRCm39)	missense	probably benign	0.06

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