Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Tmf1'

85727

Institutional Source

Beutler Lab

Gene Symbol

Tmf1

Ensembl Gene

ENSMUSG00000030059

Gene Name

TATA element modulatory factor 1

Synonyms

7030402D04Rik, LOC232286

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1078 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

97152997-97179122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97173300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 482 (D482G)

Ref Sequence

ENSEMBL: ENSMUSP00000093325 (fasta)

Gene Model

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

AlphaFold

B9EKI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000095664
AA Change: D482G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D482G

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 damaging
Transcript: ENSMUST00000124173
AA Change: D482G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: D482G

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

0.1311

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Tmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Tmf1	APN	6	97176494	missense	probably benign	0.00
IGL00846:Tmf1	APN	6	97173316	missense	possibly damaging	0.88
IGL01575:Tmf1	APN	6	97175936	missense	probably damaging	1.00
IGL01922:Tmf1	APN	6	97176930	missense	probably benign	0.00
IGL02550:Tmf1	APN	6	97158561	missense	probably benign	0.28
IGL02675:Tmf1	APN	6	97164042	splice site	probably benign
IGL02985:Tmf1	APN	6	97176809	missense	probably damaging	1.00
IGL03324:Tmf1	APN	6	97163653	missense	probably damaging	0.99
caddy	UTSW	6	97161447	nonsense	probably null
R0028:Tmf1	UTSW	6	97158098	missense	probably damaging	1.00
R0153:Tmf1	UTSW	6	97170384	missense	probably damaging	0.97
R0325:Tmf1	UTSW	6	97176504	missense	possibly damaging	0.51
R0420:Tmf1	UTSW	6	97176141	missense	probably damaging	1.00
R0730:Tmf1	UTSW	6	97176492	missense	probably benign
R0825:Tmf1	UTSW	6	97175995	missense	probably benign
R0827:Tmf1	UTSW	6	97158050	nonsense	probably null
R0839:Tmf1	UTSW	6	97176323	missense	probably damaging	1.00
R1905:Tmf1	UTSW	6	97161479	missense	possibly damaging	0.53
R2274:Tmf1	UTSW	6	97163586	missense	probably damaging	1.00
R3701:Tmf1	UTSW	6	97172331	missense	possibly damaging	0.51
R3953:Tmf1	UTSW	6	97176206	missense	probably damaging	0.99
R3955:Tmf1	UTSW	6	97176206	missense	probably damaging	0.99
R4398:Tmf1	UTSW	6	97178896	missense	probably damaging	0.99
R4416:Tmf1	UTSW	6	97178988	missense	probably damaging	1.00
R4497:Tmf1	UTSW	6	97172332	missense	probably benign	0.00
R4592:Tmf1	UTSW	6	97173400	missense	probably benign	0.00
R4669:Tmf1	UTSW	6	97170427	missense	probably benign	0.00
R5214:Tmf1	UTSW	6	97167292	missense	possibly damaging	0.81
R5352:Tmf1	UTSW	6	97176809	missense	probably damaging	1.00
R5530:Tmf1	UTSW	6	97158087	missense	probably damaging	1.00
R5815:Tmf1	UTSW	6	97173403	missense	probably benign	0.28
R6806:Tmf1	UTSW	6	97161447	nonsense	probably null
R6837:Tmf1	UTSW	6	97176581	missense	possibly damaging	0.76
R6853:Tmf1	UTSW	6	97168849	missense	probably damaging	0.99
R6887:Tmf1	UTSW	6	97176838	missense	probably damaging	1.00
R7058:Tmf1	UTSW	6	97156950	missense	probably damaging	1.00
R7145:Tmf1	UTSW	6	97176118	missense	probably damaging	1.00
R7340:Tmf1	UTSW	6	97168100	missense	possibly damaging	0.81
R7573:Tmf1	UTSW	6	97158494	missense	probably benign	0.14
R7809:Tmf1	UTSW	6	97161459	missense	probably damaging	0.99
R7833:Tmf1	UTSW	6	97161411	missense	probably benign	0.06
R8728:Tmf1	UTSW	6	97156860	missense	probably damaging	1.00
R9004:Tmf1	UTSW	6	97175777	missense	probably benign	0.14
R9425:Tmf1	UTSW	6	97172332	missense	probably benign	0.00
R9436:Tmf1	UTSW	6	97176656	missense	probably benign	0.05
R9454:Tmf1	UTSW	6	97178905	missense	probably benign	0.00
R9458:Tmf1	UTSW	6	97176421	missense	probably benign	0.00
R9490:Tmf1	UTSW	6	97160266	missense	probably benign	0.00
R9544:Tmf1	UTSW	6	97170332	missense	possibly damaging	0.92
R9558:Tmf1	UTSW	6	97170332	missense	possibly damaging	0.92
R9560:Tmf1	UTSW	6	97170332	missense	possibly damaging	0.92
R9595:Tmf1	UTSW	6	97158496	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACATACGAGCCTGGAACCCTTGG -3'
(R):5'- CCTGTAAGGTTAGACGCAGAAGTGG -3'

Sequencing Primer
(F):5'- GGAGTTatgtgggtgctgg -3'
(R):5'- TCAGTGTGCAATCCTACCAGG -3'

Posted On

2013-11-18