Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Tmf1'

536993

Institutional Source

Beutler Lab

Gene Symbol

Tmf1

Ensembl Gene

ENSMUSG00000030059

Gene Name

TATA element modulatory factor 1

Synonyms

7030402D04Rik, LOC232286

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97152997-97179122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97176838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 91 (D91E)

Ref Sequence

ENSEMBL: ENSMUSP00000120093 (fasta)

Gene Model

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

AlphaFold

B9EKI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000095664
AA Change: D91E

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

SMART Domains

Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D91E

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: D91E

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

SMART Domains

Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: D91E

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

Meta Mutation Damage Score

0.1934

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 79,092,483	V543I	probably damaging	Het
Adcy5	A	G	16: 35,298,590	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,542,733	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,528,701	M2004L	probably benign	Het
Anapc1	A	G	2: 128,659,768	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,723,698	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,519,144	L966P	probably benign	Het
Atp8a1	T	C	5: 67,738,451	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,078,653	S252P	possibly damaging	Het
Cep63	A	G	9: 102,625,927		probably benign	Het
Chrna5	G	T	9: 55,005,133	V302L	probably benign	Het
Crtc2	A	G	3: 90,261,071	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,137,149	D140A	probably damaging	Het
Exosc8	C	T	3: 54,733,699	V39M	probably damaging	Het
Fam135b	A	C	15: 71,463,315	S677A	probably damaging	Het
Hif1an	T	C	19: 44,563,389	Y93H	probably damaging	Het
Hrc	T	C	7: 45,335,664	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,189,820	T139A	possibly damaging	Het
Kdr	T	G	5: 75,968,451	R178S	probably benign	Het
Lrrc61	A	C	6: 48,568,432	N63T	probably damaging	Het
Mrc1	C	T	2: 14,325,237	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,498,635	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836	I364T	probably benign	Het
Nisch	C	T	14: 31,185,344		probably benign	Het
Olfr1373	C	A	11: 52,145,352	M59I	probably benign	Het
Prrc2a	T	C	17: 35,155,675	D1333G	probably damaging	Het
Raly	G	T	2: 154,861,910	V134F	probably damaging	Het
Rbm6	T	C	9: 107,852,231	Y406C	probably damaging	Het
Robo4	G	C	9: 37,402,067	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,760,444	S383R	probably benign	Het
Sgtb	T	C	13: 104,111,151	W13R	probably benign	Het
Slit3	T	C	11: 35,544,806		probably null	Het
Tbc1d32	G	A	10: 56,151,811	Q732*	probably null	Het
Tek	T	A	4: 94,804,944	C247S	probably damaging	Het
Usp39	A	G	6: 72,333,157	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,690,827	C770S	probably damaging	Het
Wdr31	C	T	4: 62,457,565	G58R	probably benign	Het
Zfyve26	A	G	12: 79,266,449	I54T	probably damaging	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
R1078:Tmf1	UTSW	6	97173300	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
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'- ACACGGAGTCTCTCACTTCAG -3'
(R):5'- GCTCCCACTTGATGACTGATG -3'

Sequencing Primer
(F):5'- AGCTGTCTCAGAAACTCTGGACTG -3'
(R):5'- CACTTCAACCTGGGGATT -3'

Posted On

2018-10-18