Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Tmf1'

298011

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmf1

Ensembl Gene

ENSMUSG00000030059

Gene Name

TATA element modulatory factor 1

Synonyms

7030402D04Rik, LOC232286

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

97152997-97179122 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97158561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 918 (D918G)

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 benign
Transcript: ENSMUST00000095664
AA Change: D918G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D918G

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	T	G	15: 74,880,755	H24P	probably damaging	Het
Acadl	A	G	1: 66,845,166		probably null	Het
Acer3	G	A	7: 98,223,978	T171I	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Anxa2	A	G	9: 69,467,306	S22G	probably benign	Het
Arrb2	T	C	11: 70,436,870	I120T	probably damaging	Het
Atp11a	G	T	8: 12,816,997	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009	V762A	probably benign	Het
Ccdc61	A	T	7: 18,893,302	S48T	probably benign	Het
Cntn2	T	C	1: 132,529,063	M82V	probably null	Het
Cobll1	A	G	2: 65,107,863	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,884,135	D465E	probably benign	Het
Def6	A	T	17: 28,228,261	E622V	probably benign	Het
Dmgdh	T	C	13: 93,717,575	Y678H	probably damaging	Het
Dock9	A	T	14: 121,698,312	M1K	probably null	Het
Esyt1	T	C	10: 128,522,093	K216E	probably damaging	Het
Fhod3	A	G	18: 25,022,960	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,881,834	V549I	probably benign	Het
Gm1966	A	T	7: 106,601,639		noncoding transcript	Het
Gm7361	A	G	5: 26,261,122	I161V	possibly damaging	Het
Gsn	T	C	2: 35,282,607		probably benign	Het
Il16	T	A	7: 83,674,496	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055	D67G	probably benign	Het
Insrr	T	C	3: 87,804,498	L515P	probably damaging	Het
Jhy	A	G	9: 40,917,170	F480S	probably benign	Het
Klc4	C	A	17: 46,636,910		probably null	Het
Klhl12	G	T	1: 134,467,705	C135F	possibly damaging	Het
Mboat7	G	T	7: 3,683,906		probably null	Het
Myo1f	A	G	17: 33,580,150		probably benign	Het
Myo1f	G	A	17: 33,588,142	D522N	probably damaging	Het
Nbea	C	A	3: 56,019,414	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,177,447	D602G	probably benign	Het
Ncaph2	A	T	15: 89,369,861	K344*	probably null	Het
Nek2	A	G	1: 191,822,259	Y70C	probably damaging	Het
Olfr1277	T	A	2: 111,270,004	D121V	probably damaging	Het
Olfr1281	T	C	2: 111,328,500	L27P	probably damaging	Het
Olfr31	T	C	14: 14,328,423	L104P	possibly damaging	Het
Olfr857	C	A	9: 19,713,047	F73L	possibly damaging	Het
Olfr955	T	A	9: 39,470,546	Y60F	probably benign	Het
Olfr992	G	A	2: 85,399,822	A237V	probably damaging	Het
Plcb3	T	A	19: 6,960,176	K625*	probably null	Het
Plrg1	T	C	3: 83,061,123		probably null	Het
Ptpn12	A	G	5: 20,998,139	V547A	probably benign	Het
Ralgapb	A	G	2: 158,448,411	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,162,019	E41G	probably damaging	Het
Rela	G	T	19: 5,641,506	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,871,862	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,440,949	K1666*	probably null	Het
Slco1a1	C	T	6: 141,943,465	M40I	probably benign	Het
Smarca4	C	A	9: 21,686,122	P1391Q	probably benign	Het
Stra6	A	G	9: 58,150,083	N392S	possibly damaging	Het
Syt4	A	G	18: 31,444,193	I36T	probably damaging	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmem87a	T	A	2: 120,374,485		probably null	Het
Tnfaip2	A	G	12: 111,446,101	Y312C	probably damaging	Het
Usp47	C	T	7: 112,104,354	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,451,732	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,096	V953A	probably benign	Het
Wasl	A	G	6: 24,633,884	F127S	probably damaging	Het
Wdr1	C	T	5: 38,540,863	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,330,918	T214I	probably damaging	Het
Xpo5	A	G	17: 46,229,329	D693G	probably benign	Het
Zan	A	G	5: 137,387,039	L5044P	unknown	Het
Zhx3	T	C	2: 160,781,296	N317S	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
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
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

Posted On

2015-04-16