Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Tmf1'

714461

Institutional Source

Beutler Lab

Gene Symbol

Tmf1

Ensembl Gene

ENSMUSG00000030059

Gene Name

TATA element modulatory factor 1

Synonyms

LOC232286, 7030402D04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97129958-97156083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97155866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 40 (E40G)

Ref Sequence

ENSEMBL: ENSMUSP00000093325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173] [ENSMUST00000164744] [ENSMUST00000204056]

AlphaFold

B9EKI3

Predicted Effect

probably benign
Transcript: ENSMUST00000095664
AA Change: E40G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: E40G

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

SMART Domains

Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: E40G

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

probably benign
Transcript: ENSMUST00000164744

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061

Domain	Start	End	E-Value	Type
Pfam:ThiF	54	199	1.5e-41	PFAM
Pfam:UBA_e1_thiolCys	202	248	8.7e-15	PFAM
Pfam:UBACT	255	321	9e-25	PFAM
E2_bind	360	448	1.02e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204056

SMART Domains

Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	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
R0028:Tmf1	UTSW	6	97,135,059 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTAGCAATTGGGGATCTG -3'
(R):5'- GTTGAGAACGGCCATGAAGC -3'

Sequencing Primer
(F):5'- GGGCTGTGCTCCTGACTCTG -3'
(R):5'- TGGTAACTAAGGGCTCCGCTC -3'

Posted On

2022-06-15