Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Trim66'

603338

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109460753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 809 (S809P)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]

AlphaFold

Q924W6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033339
AA Change: S707P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: S707P

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106739
AA Change: S707P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: S707P

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106741
AA Change: S809P

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

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: S809P

Domain	Start	End	E-Value	Type
RING	28	78	2.38e-2	SMART
BBOX	102	140	1.48e0	SMART
PHD	106	171	7.77e0	SMART
RING	107	170	4.38e0	SMART
BBOX	162	203	4.21e-3	SMART
BBC	210	336	1.61e-39	SMART
low complexity region	420	435	N/A	INTRINSIC
low complexity region	554	588	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
PHD	1100	1143	4.09e-10	SMART
BROMO	1171	1277	8.22e-27	SMART
low complexity region	1287	1301	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831 (GRCm38)		probably benign	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Flvcr2	T	A	12: 85,747,186 (GRCm38)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Mboat7	T	A	7: 3,691,857 (GRCm38)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666 (GRCm38)	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm38)	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	Het

Other mutations in Trim66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Trim66	APN	7	109,455,066 (GRCm38)	missense	probably benign	0.02
IGL01758:Trim66	APN	7	109,486,045 (GRCm38)	critical splice donor site	probably null
IGL01982:Trim66	APN	7	109,458,763 (GRCm38)	missense	probably benign	0.00
IGL01983:Trim66	APN	7	109,458,251 (GRCm38)	nonsense	probably null
IGL02149:Trim66	APN	7	109,460,902 (GRCm38)	missense	possibly damaging	0.66
IGL02392:Trim66	APN	7	109,460,274 (GRCm38)	missense	probably benign	0.01
IGL02483:Trim66	APN	7	109,477,630 (GRCm38)	splice site	probably benign
IGL02832:Trim66	APN	7	109,460,497 (GRCm38)	missense	probably damaging	1.00
IGL02945:Trim66	APN	7	109,460,176 (GRCm38)	nonsense	probably null
IGL03085:Trim66	APN	7	109,458,745 (GRCm38)	missense	probably benign	0.17
PIT1430001:Trim66	UTSW	7	109,475,247 (GRCm38)	missense	probably damaging	0.99
R0326:Trim66	UTSW	7	109,460,172 (GRCm38)	missense	probably benign	0.00
R0358:Trim66	UTSW	7	109,460,176 (GRCm38)	nonsense	probably null
R0401:Trim66	UTSW	7	109,475,264 (GRCm38)	missense	probably damaging	0.98
R0470:Trim66	UTSW	7	109,457,542 (GRCm38)	splice site	probably benign
R0568:Trim66	UTSW	7	109,460,695 (GRCm38)	missense	probably benign	0.00
R0669:Trim66	UTSW	7	109,454,992 (GRCm38)	intron	probably benign
R0980:Trim66	UTSW	7	109,455,670 (GRCm38)	missense	probably damaging	1.00
R1015:Trim66	UTSW	7	109,455,233 (GRCm38)	missense	probably damaging	1.00
R1078:Trim66	UTSW	7	109,472,319 (GRCm38)	missense	probably damaging	1.00
R1099:Trim66	UTSW	7	109,475,454 (GRCm38)	missense	probably benign	0.34
R1181:Trim66	UTSW	7	109,484,577 (GRCm38)	critical splice donor site	probably null
R1497:Trim66	UTSW	7	109,484,619 (GRCm38)	missense	probably benign	0.00
R1583:Trim66	UTSW	7	109,455,080 (GRCm38)	missense	probably damaging	1.00
R1843:Trim66	UTSW	7	109,475,839 (GRCm38)	missense	probably damaging	0.99
R1998:Trim66	UTSW	7	109,484,577 (GRCm38)	critical splice donor site	probably null
R2016:Trim66	UTSW	7	109,472,232 (GRCm38)	critical splice donor site	probably null
R2143:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R2144:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R2145:Trim66	UTSW	7	109,475,113 (GRCm38)	missense	probably damaging	0.98
R3945:Trim66	UTSW	7	109,472,268 (GRCm38)	missense	possibly damaging	0.94
R4012:Trim66	UTSW	7	109,458,131 (GRCm38)	missense	probably damaging	0.98
R4464:Trim66	UTSW	7	109,477,690 (GRCm38)	missense	possibly damaging	0.51
R4473:Trim66	UTSW	7	109,481,995 (GRCm38)	missense	probably damaging	1.00
R4729:Trim66	UTSW	7	109,456,060 (GRCm38)	critical splice donor site	probably null
R4730:Trim66	UTSW	7	109,483,069 (GRCm38)	missense	probably damaging	1.00
R4775:Trim66	UTSW	7	109,457,589 (GRCm38)	nonsense	probably null
R4819:Trim66	UTSW	7	109,457,586 (GRCm38)	missense	probably damaging	1.00
R5269:Trim66	UTSW	7	109,457,590 (GRCm38)	missense	probably benign	0.00
R5557:Trim66	UTSW	7	109,483,737 (GRCm38)	missense	probably benign	0.06
R5832:Trim66	UTSW	7	109,455,202 (GRCm38)	missense	probably damaging	1.00
R6220:Trim66	UTSW	7	109,483,093 (GRCm38)	missense	probably damaging	0.97
R6243:Trim66	UTSW	7	109,460,274 (GRCm38)	missense	probably benign	0.01
R6374:Trim66	UTSW	7	109,486,062 (GRCm38)	missense	probably benign
R6450:Trim66	UTSW	7	109,460,738 (GRCm38)	missense	probably benign	0.09
R6543:Trim66	UTSW	7	109,475,879 (GRCm38)	missense	probably benign	0.01
R6788:Trim66	UTSW	7	109,477,754 (GRCm38)	missense	probably damaging	1.00
R6842:Trim66	UTSW	7	109,460,776 (GRCm38)	missense	probably benign	0.00
R7169:Trim66	UTSW	7	109,455,121 (GRCm38)	missense	probably benign	0.25
R7257:Trim66	UTSW	7	109,460,244 (GRCm38)	missense	probably damaging	1.00
R7328:Trim66	UTSW	7	109,457,751 (GRCm38)	missense	probably damaging	0.99
R7616:Trim66	UTSW	7	109,483,749 (GRCm38)	missense	probably damaging	0.99
R8423:Trim66	UTSW	7	109,475,392 (GRCm38)	missense	possibly damaging	0.77
R8855:Trim66	UTSW	7	109,481,981 (GRCm38)	missense	probably damaging	1.00
R9130:Trim66	UTSW	7	109,477,689 (GRCm38)	missense	possibly damaging	0.90
R9137:Trim66	UTSW	7	109,475,123 (GRCm38)	missense	probably damaging	0.99
R9640:Trim66	UTSW	7	109,475,618 (GRCm38)	missense	probably damaging	1.00
RF024:Trim66	UTSW	7	109,460,740 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ATACGGATCTCGGCTCCACATG -3'
(R):5'- TTCCAACACTGTGGAGATGG -3'

Sequencing Primer
(F):5'- TGCACATCAGAAACCGGTG -3'
(R):5'- AGATGGAGTTGTCATCTACCAGGC -3'

Posted On

2019-12-04