Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Ttpal'

187525

Institutional Source

Beutler Lab

Gene Symbol

Ttpal

Ensembl Gene

ENSMUSG00000017679

Gene Name

tocopherol (alpha) transfer protein-like

Synonyms

5830472M02Rik, 3110080A02Rik

MMRRC Submission

039706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163444234-163460933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163457286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 253 (F253L)

Ref Sequence

ENSEMBL: ENSMUSP00000128922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109405] [ENSMUST00000109408] [ENSMUST00000156839] [ENSMUST00000171696]

AlphaFold

Q9D3D0

Predicted Effect

probably benign
Transcript: ENSMUST00000109405

SMART Domains

Protein: ENSMUSP00000105032
Gene: ENSMUSG00000017679

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
CRAL_TRIO_N	78	103	4.17e-8	SMART
Blast:SEC14	122	153	7e-13	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109408
AA Change: F253L

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: F253L

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
CRAL_TRIO_N	78	103	4.17e-8	SMART
SEC14	122	280	1.57e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144729

Predicted Effect

probably benign
Transcript: ENSMUST00000156839

SMART Domains

Protein: ENSMUSP00000121527
Gene: ENSMUSG00000017679

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
CRAL_TRIO_N	78	103	4.17e-8	SMART
Pfam:CRAL_TRIO	124	196	5.8e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171696
AA Change: F253L

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: F253L

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
CRAL_TRIO_N	78	103	4.17e-8	SMART
SEC14	122	280	1.57e-30	SMART

Meta Mutation Damage Score

0.0988

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,540,448 (GRCm39)	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,255,817 (GRCm39)		probably benign	Het
Angel2	T	A	1: 190,674,360 (GRCm39)	S371T	probably benign	Het
Atr	T	A	9: 95,743,509 (GRCm39)	N49K	probably benign	Het
Bace2	G	A	16: 97,213,335 (GRCm39)	M228I	probably damaging	Het
Bdp1	A	C	13: 100,163,941 (GRCm39)		probably null	Het
Calr	A	T	8: 85,570,748 (GRCm39)	D302E	probably benign	Het
Camta1	T	C	4: 151,164,228 (GRCm39)	D340G	probably benign	Het
Car11	C	T	7: 45,352,949 (GRCm39)	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,636,409 (GRCm39)	S275T	probably benign	Het
Cib2	G	A	9: 54,455,653 (GRCm39)	R104W	probably damaging	Het
CN725425	T	C	15: 91,130,018 (GRCm39)	S294P	possibly damaging	Het
Coro7	G	A	16: 4,446,097 (GRCm39)	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,069,540 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,914,341 (GRCm39)	Y979N	possibly damaging	Het
Dnaaf9	G	A	2: 130,554,299 (GRCm39)	P187S	probably damaging	Het
Dnah8	A	T	17: 30,944,098 (GRCm39)	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942 (GRCm39)	I3976N	possibly damaging	Het
Ebi3	T	C	17: 56,261,479 (GRCm39)	I125T	probably damaging	Het
Elfn2	C	T	15: 78,556,568 (GRCm39)	A660T	probably benign	Het
F12	C	T	13: 55,569,346 (GRCm39)	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	A	7: 129,782,187 (GRCm39)	D413V	probably damaging	Het
Gdf10	T	A	14: 33,654,000 (GRCm39)	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,845,130 (GRCm39)	V41A	probably benign	Het
Gm9857	A	T	3: 108,847,478 (GRCm39)		probably benign	Het
Gpatch11	A	G	17: 79,146,529 (GRCm39)	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,869,137 (GRCm39)	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 81,952,767 (GRCm39)	I222T	probably benign	Het
Hnf4a	T	C	2: 163,404,496 (GRCm39)	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,675,548 (GRCm39)	S330P	possibly damaging	Het
Hycc1	T	A	5: 24,204,989 (GRCm39)	M1L	possibly damaging	Het
Ift122	T	C	6: 115,900,844 (GRCm39)	V1054A	probably benign	Het
Il27	T	A	7: 126,188,647 (GRCm39)	E175D	probably benign	Het
Lactb2	A	T	1: 13,730,641 (GRCm39)	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,403,605 (GRCm39)	V576A	probably benign	Het
Mansc4	C	G	6: 146,976,689 (GRCm39)	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,183,379 (GRCm39)		probably benign	Het
Mrpl16	C	T	19: 11,751,959 (GRCm39)	R240*	probably null	Het
Muc17	A	G	5: 137,172,843 (GRCm39)	V70A	probably benign	Het
Ndnf	A	G	6: 65,680,054 (GRCm39)	D111G	probably benign	Het
Nek4	T	C	14: 30,704,384 (GRCm39)	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,412,126 (GRCm39)	M98K	probably benign	Het
Nup188	T	C	2: 30,230,667 (GRCm39)	S1402P	probably benign	Het
Or10j2	T	A	1: 173,098,467 (GRCm39)	S242T	probably damaging	Het
Or2t48	A	T	11: 58,420,237 (GRCm39)	S192T	probably damaging	Het
Or4f14b	C	T	2: 111,775,264 (GRCm39)	C179Y	probably damaging	Het
Or52i2	A	G	7: 102,319,609 (GRCm39)	T161A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,607 (GRCm39)	N88K	probably benign	Het
Or5ac24	T	C	16: 59,165,790 (GRCm39)	I91M	possibly damaging	Het
Or5m9b	T	A	2: 85,905,594 (GRCm39)	V170D	probably benign	Het
Parp10	A	T	15: 76,126,270 (GRCm39)	V306E	probably benign	Het
Pcnx3	A	G	19: 5,723,343 (GRCm39)	L1284P	probably damaging	Het
Pld1	A	T	3: 28,103,389 (GRCm39)	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893 (GRCm39)	D294G	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ptprn2	A	C	12: 116,685,792 (GRCm39)	T84P	possibly damaging	Het
Rln1	C	T	19: 29,309,468 (GRCm39)	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681 (GRCm39)	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660 (GRCm39)	T398A	probably benign	Het
Rprd2	G	T	3: 95,672,115 (GRCm39)	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,212,199 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,548,945 (GRCm39)	C140S	probably damaging	Het
Shpk	A	C	11: 73,113,757 (GRCm39)	D390A	probably benign	Het
Slc22a20	C	T	19: 6,022,876 (GRCm39)		probably benign	Het
Steap2	A	G	5: 5,727,393 (GRCm39)	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,111,289 (GRCm39)		probably null	Het
Tgm3	G	T	2: 129,883,688 (GRCm39)	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627 (GRCm39)	L186V	probably damaging	Het
Ttc41	T	A	10: 86,612,116 (GRCm39)	W1130R	possibly damaging	Het
Vmn2r99	G	T	17: 19,582,514 (GRCm39)	V40F	probably benign	Het
Xkr9	G	A	1: 13,771,167 (GRCm39)	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,661,268 (GRCm39)	A369V	probably benign	Het

Other mutations in Ttpal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Ttpal	APN	2	163,449,240 (GRCm39)	missense	probably damaging	1.00
IGL02081:Ttpal	APN	2	163,457,308 (GRCm39)	missense	probably benign	0.04
IGL02561:Ttpal	APN	2	163,449,369 (GRCm39)	missense	probably damaging	1.00
IGL02643:Ttpal	APN	2	163,449,140 (GRCm39)	utr 5 prime	probably benign
P0023:Ttpal	UTSW	2	163,453,729 (GRCm39)	missense	probably damaging	1.00
R1562:Ttpal	UTSW	2	163,457,323 (GRCm39)	missense	probably benign	0.00
R2879:Ttpal	UTSW	2	163,457,503 (GRCm39)	splice site	probably null
R4915:Ttpal	UTSW	2	163,449,397 (GRCm39)	missense	probably damaging	1.00
R4949:Ttpal	UTSW	2	163,455,671 (GRCm39)	missense	probably damaging	1.00
R7471:Ttpal	UTSW	2	163,448,945 (GRCm39)	splice site	probably null
R9252:Ttpal	UTSW	2	163,449,105 (GRCm39)	intron	probably benign
R9599:Ttpal	UTSW	2	163,457,458 (GRCm39)	missense	probably benign	0.00
R9667:Ttpal	UTSW	2	163,449,596 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGCACTTAAATGGCCTGAACAC -3'
(R):5'- TCTCCCGAAAGAGGGCTAATAGCAG -3'

Sequencing Primer
(F):5'- tgaacactgaagaaaatgtctcc -3'
(R):5'- TCGCATGGAGTCATCACACTG -3'

Posted On

2014-05-09