Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02184:Trim12c'

284247

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim12c

Ensembl Gene

ENSMUSG00000057143

Gene Name

tripartite motif-containing 12C

Synonyms

Trim12-2, 9230105E10Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02184

Quality Score

Status

Chromosome

Chromosomal Location

103987961-104002569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103997430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 42 (Y42C)

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: Y42C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
AA Change: Y42C

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: Y42C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
AA Change: Y42C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,253,241 (GRCm39)		probably benign	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Aopep	T	G	13: 63,215,925 (GRCm39)	I399S	possibly damaging	Het
Atp8b3	A	C	10: 80,363,067 (GRCm39)		probably benign	Het
Brwd1	A	T	16: 95,815,029 (GRCm39)	M1417K	probably damaging	Het
Camk2d	A	T	3: 126,591,422 (GRCm39)	R297S	probably damaging	Het
Cntnap1	A	T	11: 101,069,191 (GRCm39)	H215L	probably damaging	Het
Cytip	T	C	2: 58,023,750 (GRCm39)	S357G	probably damaging	Het
Eif1ad15	T	C	12: 88,287,951 (GRCm39)	R101G	probably benign	Het
Fancg	A	G	4: 43,006,872 (GRCm39)	Y273H	possibly damaging	Het
Fbxo36	A	G	1: 84,858,885 (GRCm39)	S57G	probably benign	Het
Fgf8	A	T	19: 45,725,655 (GRCm39)	L141Q	probably damaging	Het
Grm5	C	T	7: 87,675,650 (GRCm39)	T388M	probably damaging	Het
Hipk1	A	G	3: 103,666,066 (GRCm39)	L589P	possibly damaging	Het
Kiz	T	C	2: 146,731,520 (GRCm39)	S337P	probably benign	Het
Lrrc37a	A	T	11: 103,388,435 (GRCm39)	I2330K	unknown	Het
Mdfic	T	A	6: 15,770,366 (GRCm39)	I124K	possibly damaging	Het
Mdfic2	T	C	6: 98,225,059 (GRCm39)	S75G	possibly damaging	Het
Mttp	A	G	3: 137,821,761 (GRCm39)		probably null	Het
Myom1	G	A	17: 71,379,132 (GRCm39)	S632N	possibly damaging	Het
Nlrp12	T	C	7: 3,289,094 (GRCm39)	K473E	probably damaging	Het
Nrp2	C	A	1: 62,758,099 (GRCm39)	C28*	probably null	Het
Nwd2	G	T	5: 63,963,020 (GRCm39)	G868V	probably damaging	Het
Or4a73	G	A	2: 89,420,637 (GRCm39)	T274I	probably damaging	Het
Or4c58	G	A	2: 89,674,729 (GRCm39)	A196V	probably damaging	Het
Or5w1	A	G	2: 87,487,136 (GRCm39)	L43P	probably damaging	Het
Pappa	A	T	4: 65,258,928 (GRCm39)	M1559L	possibly damaging	Het
Pmm2	T	A	16: 8,455,668 (GRCm39)	D10E	possibly damaging	Het
Polm	T	C	11: 5,780,137 (GRCm39)	Q300R	probably benign	Het
Prrc2b	T	A	2: 32,111,467 (GRCm39)	N1208K	probably benign	Het
Serpinb3c	T	C	1: 107,199,648 (GRCm39)	D291G	probably damaging	Het
Skic3	A	G	13: 76,259,810 (GRCm39)	K37E	probably damaging	Het
Slc1a2	T	C	2: 102,578,889 (GRCm39)	F268S	probably damaging	Het
Slc26a4	A	G	12: 31,599,948 (GRCm39)	Y127H	probably damaging	Het
Slc29a4	A	G	5: 142,703,506 (GRCm39)	Y260C	probably damaging	Het
Sorbs3	C	T	14: 70,421,455 (GRCm39)		probably null	Het
Spen	T	C	4: 141,214,917 (GRCm39)	Y534C	unknown	Het
Tmem237	T	C	1: 59,159,270 (GRCm39)		probably null	Het
Tnfrsf21	A	T	17: 43,396,354 (GRCm39)	N546I	probably benign	Het
Tpgs2	T	A	18: 25,273,630 (GRCm39)	D177V	probably damaging	Het
Tpx2	C	T	2: 152,724,240 (GRCm39)	R339*	probably null	Het
Trip10	A	T	17: 57,564,272 (GRCm39)	E341V	probably damaging	Het
Trpm8	A	T	1: 88,258,416 (GRCm39)		probably null	Het
Ubr1	T	A	2: 120,730,989 (GRCm39)	I1221F	probably benign	Het
Ucp2	C	T	7: 100,148,529 (GRCm39)	A301V	probably benign	Het
Zfyve1	T	C	12: 83,605,467 (GRCm39)	I411V	probably benign	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
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
R3870:Trim12c	UTSW	7	103,997,544 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16