Mutagenetix > Incidental Mutations

Incidental Mutation 'H8786:Trim72'

44442

Institutional Source

Beutler Lab

Gene Symbol

Trim72

Ensembl Gene

ENSMUSG00000042828

Gene Name

tripartite motif-containing 72

Synonyms

mitsugumin 53, MG53

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

H8786 (G3) of strain 617

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

128003949-128011033 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128004791 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 103 (L103P)

Ref Sequence

ENSEMBL: ENSMUSP00000101855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081042
AA Change: L103P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: L103P

Domain	Start	End	E-Value	Type
RING	14	56	5.14e-7	SMART
BBOX	81	122	3.89e-7	SMART
coiled coil region	135	169	N/A	INTRINSIC
coiled coil region	204	232	N/A	INTRINSIC
PRY	288	341	6.48e-13	SMART
Pfam:SPRY	342	472	4.9e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106248
AA Change: L103P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: L103P

Domain	Start	End	E-Value	Type
RING	14	56	5.14e-7	SMART
BBOX	81	122	3.89e-7	SMART
coiled coil region	135	169	N/A	INTRINSIC
coiled coil region	204	232	N/A	INTRINSIC
PRY	288	341	6.48e-13	SMART
Pfam:SPRY	344	465	1.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206216

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,494,094	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 131,139,177	R103S	probably damaging	Het
Aars	A	G	8: 111,045,555	D459G	probably benign	Het
Adam25	A	T	8: 40,754,224	M176L	probably benign	Het
Adcy5	A	G	16: 35,267,181	I471V	probably damaging	Het
Ano8	A	T	8: 71,478,744		probably benign	Het
Arhgef28	T	A	13: 97,946,953	Q1136L	probably damaging	Het
Atp13a3	A	T	16: 30,359,725	C164*	probably null	Het
Avl9	G	A	6: 56,757,310	A625T	probably damaging	Het
Avpr1a	A	T	10: 122,449,468	M222L	probably benign	Het
B4galnt4	A	T	7: 141,071,322	M939L	probably damaging	Het
B4galt6	A	G	18: 20,688,944	F331S	probably benign	Het
C2cd2	G	T	16: 97,879,640	Q325K	possibly damaging	Het
Caml	T	G	13: 55,628,596	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,833,373	T132A	possibly damaging	Het
Ces1h	A	C	8: 93,362,922	V283G	probably damaging	Het
Clptm1	A	T	7: 19,635,704	V427D	possibly damaging	Het
Drd1	T	A	13: 54,053,103	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,559,458	S181W	probably damaging	Het
Gfra2	C	T	14: 70,978,378	T169M	possibly damaging	Het
Gm42542	T	C	6: 68,895,650		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636		probably null	Het
Hsd11b1	C	A	1: 193,240,252	A166S	probably benign	Het
Kcnab3	T	A	11: 69,328,267	F101L	probably damaging	Het
Klf6	C	A	13: 5,861,791	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,780,072	P191L	unknown	Het
Lrrk2	T	A	15: 91,673,358	N26K	probably benign	Het
Mrgprd	T	C	7: 145,322,267	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,076,361	I127T	possibly damaging	Het
Myo7a	T	G	7: 98,095,778	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,150,477	F297S	probably damaging	Het
Npas1	A	G	7: 16,461,350	I351T	possibly damaging	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr311	A	T	11: 58,841,320	I69F	probably benign	Het
Olfr360	A	G	2: 37,068,329	E8G	probably benign	Het
Parp11	A	G	6: 127,471,635	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,294,343	V300A	probably damaging	Het
Pik3cb	T	C	9: 99,046,559	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,720,531	L57*	probably null	Het
Rela	T	A	19: 5,647,018	S418T	probably benign	Het
Rptn	A	G	3: 93,397,873	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,961,783	N413K	possibly damaging	Het
Slc6a2	A	G	8: 92,994,640	I466V	probably benign	Het
Slco4c1	A	T	1: 96,841,151	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,186,865	M164V	probably benign	Het
Spta1	G	A	1: 174,179,839	V212M	probably damaging	Het
Sqor	A	C	2: 122,792,368	I142L	probably benign	Het
Suco	T	C	1: 161,852,851	E317G	probably damaging	Het
Tlk2	T	A	11: 105,254,979	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,226,262	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,098,466	K36N	probably damaging	Het
Urb1	T	A	16: 90,769,469	M1477L	probably benign	Het
Vwa2	T	A	19: 56,909,732	M721K	possibly damaging	Het
Zcchc11	T	C	4: 108,550,815		probably null	Het
Zfp143	T	G	7: 110,094,368	D636E	probably damaging	Het

Other mutations in Trim72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02195:Trim72	APN	7	128007964	missense	probably damaging	0.97
IGL02538:Trim72	APN	7	128004770	missense	probably damaging	1.00
IGL02794:Trim72	APN	7	128004532	missense	probably damaging	1.00
IGL03077:Trim72	APN	7	128007841	missense	probably benign
R1101:Trim72	UTSW	7	128010247	missense	possibly damaging	0.94
R1711:Trim72	UTSW	7	128004585	missense	probably damaging	1.00
R1826:Trim72	UTSW	7	128007844	missense	possibly damaging	0.59
R1853:Trim72	UTSW	7	128009082	missense	probably benign	0.01
R1854:Trim72	UTSW	7	128009082	missense	probably benign	0.01
R2513:Trim72	UTSW	7	128004706	missense	possibly damaging	0.93
R4163:Trim72	UTSW	7	128007908	missense	probably benign	0.05
R4587:Trim72	UTSW	7	128007992	missense	probably benign	0.21
R5027:Trim72	UTSW	7	128007965	missense	probably damaging	0.99
R5067:Trim72	UTSW	7	128009967	missense	possibly damaging	0.86
R5276:Trim72	UTSW	7	128004542	missense	probably damaging	1.00
R5290:Trim72	UTSW	7	128010004	missense	probably benign	0.03
R5339:Trim72	UTSW	7	128010333	missense	probably benign
R5410:Trim72	UTSW	7	128009923	missense	probably damaging	1.00
R6301:Trim72	UTSW	7	128004614	missense	possibly damaging	0.93
R6594:Trim72	UTSW	7	128010048	missense	probably damaging	1.00
R6774:Trim72	UTSW	7	128010386	missense	probably damaging	1.00
R7162:Trim72	UTSW	7	128007649	missense	probably benign	0.18
R7372:Trim72	UTSW	7	128004686	missense	possibly damaging	0.63
R7937:Trim72	UTSW	7	128010319	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGGACGACACCACATCCTCTTTAC -3'
(R):5'- CACCTGGAGCCAATTCTCAGAAGC -3'

Sequencing Primer
(F):5'- AAACCAGATTCTCTTCCAGTGTGG -3'
(R):5'- GCTCATAATGAAAGTTCAGCAGTCC -3'

Posted On

2013-06-11