Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Tmf1'

18667

Institutional Source

Beutler Lab

Gene Symbol

Tmf1

Ensembl Gene

ENSMUSG00000030059

Gene Name

TATA element modulatory factor 1

Synonyms

LOC232286, 7030402D04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97129958-97156083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97135059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 985 (E985G)

Ref Sequence

ENSEMBL: ENSMUSP00000093325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173]

AlphaFold

B9EKI3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083794

Predicted Effect

probably damaging
Transcript: ENSMUST00000095664
AA Change: E985G

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

SMART Domains

Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: E985G

Domain	Start	End	E-Value	Type
low complexity region	111	122	N/A	INTRINSIC
low complexity region	131	142	N/A	INTRINSIC
low complexity region	194	211	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	261	276	N/A	INTRINSIC
low complexity region	367	381	N/A	INTRINSIC
low complexity region	410	426	N/A	INTRINSIC
coiled coil region	443	536	N/A	INTRINSIC
Pfam:TMF_DNA_bd	540	613	5e-24	PFAM
low complexity region	697	715	N/A	INTRINSIC
low complexity region	719	732	N/A	INTRINSIC
low complexity region	803	821	N/A	INTRINSIC
coiled coil region	823	894	N/A	INTRINSIC
low complexity region	923	937	N/A	INTRINSIC
Pfam:TMF_TATA_bd	972	1085	1.5e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124173

SMART Domains

Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059

Domain	Start	End	E-Value	Type
low complexity region	111	122	N/A	INTRINSIC
low complexity region	131	142	N/A	INTRINSIC
low complexity region	194	211	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	261	276	N/A	INTRINSIC
low complexity region	367	381	N/A	INTRINSIC
low complexity region	410	426	N/A	INTRINSIC
coiled coil region	443	536	N/A	INTRINSIC
Pfam:TMF_DNA_bd	540	613	1.4e-24	PFAM
low complexity region	697	715	N/A	INTRINSIC
low complexity region	719	732	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204190

Meta Mutation Damage Score

0.3156

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with decreased testis weight, globozoospermia, absent acrosome, asthenozoospermia, and abnormal sperm midpiece morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Ccdc107	A	G	4: 43,495,549 (GRCm39)	T151A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Creb1	A	G	1: 64,609,307 (GRCm39)	D126G	probably damaging	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Macf1	A	T	4: 123,275,895 (GRCm39)	H6222Q	probably damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmem92	C	T	11: 94,669,778 (GRCm39)	V118I	possibly damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	probably damaging	Het

Other mutations in Tmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Tmf1	APN	6	97,153,455 (GRCm39)	missense	probably benign	0.00
IGL00846:Tmf1	APN	6	97,150,277 (GRCm39)	missense	possibly damaging	0.88
IGL01575:Tmf1	APN	6	97,152,897 (GRCm39)	missense	probably damaging	1.00
IGL01922:Tmf1	APN	6	97,153,891 (GRCm39)	missense	probably benign	0.00
IGL02550:Tmf1	APN	6	97,135,522 (GRCm39)	missense	probably benign	0.28
IGL02675:Tmf1	APN	6	97,141,003 (GRCm39)	splice site	probably benign
IGL02985:Tmf1	APN	6	97,153,770 (GRCm39)	missense	probably damaging	1.00
IGL03324:Tmf1	APN	6	97,140,614 (GRCm39)	missense	probably damaging	0.99
caddy	UTSW	6	97,138,408 (GRCm39)	nonsense	probably null
R0153:Tmf1	UTSW	6	97,147,345 (GRCm39)	missense	probably damaging	0.97
R0325:Tmf1	UTSW	6	97,153,465 (GRCm39)	missense	possibly damaging	0.51
R0420:Tmf1	UTSW	6	97,153,102 (GRCm39)	missense	probably damaging	1.00
R0730:Tmf1	UTSW	6	97,153,453 (GRCm39)	missense	probably benign
R0825:Tmf1	UTSW	6	97,152,956 (GRCm39)	missense	probably benign
R0827:Tmf1	UTSW	6	97,135,011 (GRCm39)	nonsense	probably null
R0839:Tmf1	UTSW	6	97,153,284 (GRCm39)	missense	probably damaging	1.00
R1078:Tmf1	UTSW	6	97,150,261 (GRCm39)	missense	probably damaging	1.00
R1905:Tmf1	UTSW	6	97,138,440 (GRCm39)	missense	possibly damaging	0.53
R2274:Tmf1	UTSW	6	97,140,547 (GRCm39)	missense	probably damaging	1.00
R3701:Tmf1	UTSW	6	97,149,292 (GRCm39)	missense	possibly damaging	0.51
R3953:Tmf1	UTSW	6	97,153,167 (GRCm39)	missense	probably damaging	0.99
R3955:Tmf1	UTSW	6	97,153,167 (GRCm39)	missense	probably damaging	0.99
R4398:Tmf1	UTSW	6	97,155,857 (GRCm39)	missense	probably damaging	0.99
R4416:Tmf1	UTSW	6	97,155,949 (GRCm39)	missense	probably damaging	1.00
R4497:Tmf1	UTSW	6	97,149,293 (GRCm39)	missense	probably benign	0.00
R4592:Tmf1	UTSW	6	97,150,361 (GRCm39)	missense	probably benign	0.00
R4669:Tmf1	UTSW	6	97,147,388 (GRCm39)	missense	probably benign	0.00
R5214:Tmf1	UTSW	6	97,144,253 (GRCm39)	missense	possibly damaging	0.81
R5352:Tmf1	UTSW	6	97,153,770 (GRCm39)	missense	probably damaging	1.00
R5530:Tmf1	UTSW	6	97,135,048 (GRCm39)	missense	probably damaging	1.00
R5815:Tmf1	UTSW	6	97,150,364 (GRCm39)	missense	probably benign	0.28
R6806:Tmf1	UTSW	6	97,138,408 (GRCm39)	nonsense	probably null
R6837:Tmf1	UTSW	6	97,153,542 (GRCm39)	missense	possibly damaging	0.76
R6853:Tmf1	UTSW	6	97,145,810 (GRCm39)	missense	probably damaging	0.99
R6887:Tmf1	UTSW	6	97,153,799 (GRCm39)	missense	probably damaging	1.00
R7058:Tmf1	UTSW	6	97,133,911 (GRCm39)	missense	probably damaging	1.00
R7145:Tmf1	UTSW	6	97,153,079 (GRCm39)	missense	probably damaging	1.00
R7340:Tmf1	UTSW	6	97,145,061 (GRCm39)	missense	possibly damaging	0.81
R7573:Tmf1	UTSW	6	97,135,455 (GRCm39)	missense	probably benign	0.14
R7809:Tmf1	UTSW	6	97,138,420 (GRCm39)	missense	probably damaging	0.99
R7833:Tmf1	UTSW	6	97,138,372 (GRCm39)	missense	probably benign	0.06
R8728:Tmf1	UTSW	6	97,133,821 (GRCm39)	missense	probably damaging	1.00
R9004:Tmf1	UTSW	6	97,152,738 (GRCm39)	missense	probably benign	0.14
R9425:Tmf1	UTSW	6	97,149,293 (GRCm39)	missense	probably benign	0.00
R9436:Tmf1	UTSW	6	97,153,617 (GRCm39)	missense	probably benign	0.05
R9454:Tmf1	UTSW	6	97,155,866 (GRCm39)	missense	probably benign	0.00
R9458:Tmf1	UTSW	6	97,153,382 (GRCm39)	missense	probably benign	0.00
R9490:Tmf1	UTSW	6	97,137,227 (GRCm39)	missense	probably benign	0.00
R9544:Tmf1	UTSW	6	97,147,293 (GRCm39)	missense	possibly damaging	0.92
R9558:Tmf1	UTSW	6	97,147,293 (GRCm39)	missense	possibly damaging	0.92
R9560:Tmf1	UTSW	6	97,147,293 (GRCm39)	missense	possibly damaging	0.92
R9595:Tmf1	UTSW	6	97,135,457 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-03-25