Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Ttc25'

37473

Institutional Source

Beutler Lab

Gene Symbol

Ttc25

Ensembl Gene

ENSMUSG00000006784

Gene Name

tetratricopeptide repeat domain 25

Synonyms

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0280 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

100545607-100572568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100550265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 107 (K107N)

Ref Sequence

ENSEMBL: ENSMUSP00000090355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006976] [ENSMUST00000092684]

AlphaFold

Q9D4B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006976
AA Change: K107N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784
AA Change: K107N

Domain	Start	End	E-Value	Type
TPR	11	44	3.69e1	SMART
TPR	45	78	3.07e1	SMART
TPR	79	112	4.96e0	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	191	208	N/A	INTRINSIC
TPR	318	351	4.96e0	SMART
TPR	358	391	1.11e1	SMART
Blast:TPR	395	428	7e-14	BLAST
TPR	435	468	2.99e1	SMART
low complexity region	493	505	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092684
AA Change: K107N

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

SMART Domains

Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784
AA Change: K107N

Domain	Start	End	E-Value	Type
TPR	11	44	3.69e1	SMART
TPR	45	78	3.07e1	SMART
TPR	79	112	4.96e0	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	191	208	N/A	INTRINSIC
TPR	318	351	4.96e0	SMART
TPR	358	391	1.11e1	SMART
Blast:TPR	395	428	5e-14	BLAST
TPR	435	468	2.99e1	SMART
coiled coil region	528	548	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
coiled coil region	599	624	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150331

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display partial preweaning lethality, impaired ciliary motility, and a variety of left-right body symmetry defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	Het

Other mutations in Ttc25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Ttc25	APN	11	100569902	missense	probably damaging	1.00
IGL02379:Ttc25	APN	11	100566983	missense	possibly damaging	0.87
IGL03091:Ttc25	APN	11	100550250	nonsense	probably null
IGL02991:Ttc25	UTSW	11	100553872	missense	probably benign	0.01
R0044:Ttc25	UTSW	11	100567001	missense	probably damaging	1.00
R0137:Ttc25	UTSW	11	100563568	missense	probably damaging	1.00
R1373:Ttc25	UTSW	11	100545832	missense	probably damaging	1.00
R1793:Ttc25	UTSW	11	100569853	splice site	probably null
R2097:Ttc25	UTSW	11	100563582	missense	possibly damaging	0.89
R2121:Ttc25	UTSW	11	100567011	critical splice donor site	probably null
R2509:Ttc25	UTSW	11	100553535	missense	probably damaging	0.99
R2655:Ttc25	UTSW	11	100553579	missense	probably damaging	1.00
R4635:Ttc25	UTSW	11	100551507	nonsense	probably null
R4773:Ttc25	UTSW	11	100549916	missense	probably benign	0.05
R4858:Ttc25	UTSW	11	100550321	missense	probably damaging	0.96
R5164:Ttc25	UTSW	11	100571520	nonsense	probably null
R5181:Ttc25	UTSW	11	100549893	missense	probably damaging	1.00
R5707:Ttc25	UTSW	11	100554061	missense	probably damaging	0.99
R5742:Ttc25	UTSW	11	100545873	missense	possibly damaging	0.90
R7634:Ttc25	UTSW	11	100561905	critical splice donor site	probably null
R7851:Ttc25	UTSW	11	100545829	missense	probably damaging	1.00
R8186:Ttc25	UTSW	11	100563679	missense	probably benign	0.27
R8194:Ttc25	UTSW	11	100563676	missense	probably benign	0.06
R8444:Ttc25	UTSW	11	100561905	critical splice donor site	probably null
R8879:Ttc25	UTSW	11	100566926	nonsense	probably null
X0018:Ttc25	UTSW	11	100553598	missense	probably damaging	0.99
X0028:Ttc25	UTSW	11	100545898	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGCCATTTCCATTGCAGCAGAC -3'
(R):5'- TGTGACCTCAGCAACAGCCAAG -3'

Sequencing Primer
(F):5'- ATTGCAGCAGACTCTGGTTAC -3'
(R):5'- CCAAGTCTAAGTGTGAGAGTCCC -3'

Posted On

2013-05-23