Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Tapt1'

578623

Institutional Source

Beutler Lab

Gene Symbol

Tapt1

Ensembl Gene

ENSMUSG00000046985

Gene Name

transmembrane anterior posterior transformation 1

Synonyms

4932414K18Rik

MMRRC Submission

045538-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44332496-44383968 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 44346030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 307 (R307*)

Ref Sequence

ENSEMBL: ENSMUSP00000062110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055128] [ENSMUST00000199374]

AlphaFold

Q4VBD2

Predicted Effect

probably null
Transcript: ENSMUST00000055128
AA Change: R307*

SMART Domains

Protein: ENSMUSP00000062110
Gene: ENSMUSG00000046985
AA Change: R307*

Domain	Start	End	E-Value	Type
low complexity region	6	43	N/A	INTRINSIC
low complexity region	54	62	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
Pfam:DUF747	152	456	8.9e-112	PFAM
low complexity region	473	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197266

Predicted Effect

probably benign
Transcript: ENSMUST00000199374

SMART Domains

Protein: ENSMUSP00000143625
Gene: ENSMUSG00000046985

Domain	Start	End	E-Value	Type
low complexity region	6	43	N/A	INTRINSIC
low complexity region	54	62	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for an ENU mutation causing a truncation exhibit vertebral trasnformations and defects in rib attachment and the xiphoid process. Mice homozygous for a transgenic gene disruption exhibit cleft palate and possible anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,152 (GRCm39)	G736R	possibly damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Ankar	A	T	1: 72,738,053 (GRCm39)	V43E	possibly damaging	Het
Apof	A	G	10: 128,105,505 (GRCm39)	I220V	probably benign	Het
Asxl1	G	T	2: 153,239,705 (GRCm39)	A499S	probably benign	Het
Baz2a	T	A	10: 127,957,942 (GRCm39)	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,807,792 (GRCm39)	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,051,082 (GRCm39)	R169W	unknown	Het
C5ar1	T	A	7: 15,982,691 (GRCm39)	I110L	probably benign	Het
Cd19	C	A	7: 126,010,975 (GRCm39)	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,344,489 (GRCm39)	C113*	probably null	Het
Cngb1	C	A	8: 95,980,811 (GRCm39)	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,379,895 (GRCm39)	K445E	probably damaging	Het
Crebrf	A	G	17: 26,982,461 (GRCm39)	M608V	unknown	Het
Csf1	T	A	3: 107,656,191 (GRCm39)	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,233,357 (GRCm39)	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,129 (GRCm39)	H1089Y	probably damaging	Het
Ddx60	C	T	8: 62,393,708 (GRCm39)	T48M	possibly damaging	Het
Defa40	T	A	8: 21,739,910 (GRCm39)	S45T	probably damaging	Het
Dock10	T	C	1: 80,518,032 (GRCm39)	D1315G	probably damaging	Het
Dock2	T	G	11: 34,586,105 (GRCm39)	N526H	probably damaging	Het
Dram2	T	C	3: 106,480,999 (GRCm39)	*268Q	probably null	Het
Emc8	A	G	8: 121,394,657 (GRCm39)	Y21H	possibly damaging	Het
Fam162a	A	G	16: 35,891,863 (GRCm39)	L4P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,744,124 (GRCm39)	I307N	probably benign	Het
Fbxw16	A	G	9: 109,268,619 (GRCm39)	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,445,096 (GRCm39)		probably null	Het
Galnt7	A	G	8: 58,037,054 (GRCm39)	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Gm28729	A	G	9: 96,403,288 (GRCm39)	I44T	possibly damaging	Het
Gm5447	A	G	13: 31,158,377 (GRCm39)	I34V	not run	Het
H2-M9	A	T	17: 36,953,303 (GRCm39)		probably null	Het
Helz	G	A	11: 107,527,104 (GRCm39)	C864Y	probably damaging	Het
Il25	A	G	14: 55,170,679 (GRCm39)	Y84C	probably null	Het
Itga10	T	A	3: 96,555,471 (GRCm39)	C142S	probably damaging	Het
Kcna10	A	T	3: 107,101,395 (GRCm39)	M9L	probably damaging	Het
Klhl6	G	T	16: 19,775,863 (GRCm39)	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,748,298 (GRCm39)	I40L	possibly damaging	Het
Mdm1	T	C	10: 117,988,171 (GRCm39)	S334P	probably benign	Het
Mllt10	T	A	2: 18,175,090 (GRCm39)	D549E	probably benign	Het
Mlxipl	T	C	5: 135,162,482 (GRCm39)	V648A	probably benign	Het
Nars2	A	G	7: 96,689,137 (GRCm39)	K353R	probably benign	Het
Nav1	T	A	1: 135,512,647 (GRCm39)	M138L	probably benign	Het
Neb	T	C	2: 52,083,902 (GRCm39)	T5635A	probably benign	Het
Nktr	A	C	9: 121,579,393 (GRCm39)	I1154L	unknown	Het
Or14j8	A	T	17: 38,263,171 (GRCm39)	V248D	probably damaging	Het
Or2a57	T	G	6: 43,213,228 (GRCm39)	S229A	probably damaging	Het
Or4g17	T	A	2: 111,209,543 (GRCm39)	L66Q	probably damaging	Het
Oxld1	T	C	11: 120,347,963 (GRCm39)	D78G	probably benign	Het
Pde1b	T	C	15: 103,433,256 (GRCm39)	I255T	probably benign	Het
Pkp4	T	A	2: 59,138,481 (GRCm39)	F244I	probably benign	Het
Polg2	C	A	11: 106,664,540 (GRCm39)	V305L	probably benign	Het
Pramel34	C	T	5: 93,784,099 (GRCm39)	C455Y	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sash1	T	C	10: 8,632,509 (GRCm39)	D242G	possibly damaging	Het
Six4	T	C	12: 73,159,304 (GRCm39)	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,710,835 (GRCm39)	Y562*	probably null	Het
Soat1	A	T	1: 156,266,887 (GRCm39)	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,740,671 (GRCm39)	N30D	probably benign	Het
Spopfm2	A	T	3: 94,083,411 (GRCm39)	N133K	probably benign	Het
Srebf2	T	A	15: 82,057,075 (GRCm39)	I270N	probably damaging	Het
St8sia3	T	C	18: 64,404,589 (GRCm39)	W289R	probably damaging	Het
Stx5a	T	A	19: 8,720,868 (GRCm39)		probably benign	Het
Tacc1	T	C	8: 25,654,480 (GRCm39)	D689G	probably damaging	Het
Tacc3	A	G	5: 33,818,628 (GRCm39)	D21G	probably benign	Het
Tbc1d9b	T	A	11: 50,022,312 (GRCm39)	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,377,971 (GRCm39)	R225K	probably benign	Het
Thumpd3	G	A	6: 113,032,730 (GRCm39)	G156D	probably benign	Het
Tmem178	C	T	17: 81,252,331 (GRCm39)	P72S	probably benign	Het
Tmem52	C	T	4: 155,553,926 (GRCm39)	P46S	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,303,792 (GRCm39)	V269D	probably benign	Het
Ubr1	A	G	2: 120,720,255 (GRCm39)		probably null	Het
Upf1	G	A	8: 70,786,073 (GRCm39)	S962L	probably benign	Het
Vcpip1	C	T	1: 9,816,745 (GRCm39)	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,722,820 (GRCm39)	S151R	probably benign	Het
Wac	T	C	18: 7,871,746 (GRCm39)		probably null	Het
Wrn	C	T	8: 33,826,024 (GRCm39)		probably null	Het
Zfp286	C	A	11: 62,671,627 (GRCm39)	D149Y	probably benign	Het
Zfp748	A	G	13: 67,690,091 (GRCm39)	C390R	probably damaging	Het
Zfp873	A	G	10: 81,896,210 (GRCm39)	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,598,261 (GRCm39)	D656N	probably benign	Het
Zmym1	T	A	4: 126,952,728 (GRCm39)	K18*	probably null	Het

Other mutations in Tapt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Tapt1	APN	5	44,336,332 (GRCm39)	missense	probably damaging	1.00
IGL03011:Tapt1	APN	5	44,350,529 (GRCm39)	missense	possibly damaging	0.58
IGL03018:Tapt1	APN	5	44,361,666 (GRCm39)	missense	probably damaging	1.00
R0385:Tapt1	UTSW	5	44,375,443 (GRCm39)	splice site	probably null
R0624:Tapt1	UTSW	5	44,334,448 (GRCm39)	missense	possibly damaging	0.81
R1491:Tapt1	UTSW	5	44,375,444 (GRCm39)	critical splice donor site	probably null
R2423:Tapt1	UTSW	5	44,349,795 (GRCm39)	missense	probably benign	0.08
R4175:Tapt1	UTSW	5	44,334,447 (GRCm39)	missense	probably benign	0.02
R5794:Tapt1	UTSW	5	44,334,476 (GRCm39)	missense	probably benign	0.00
R7344:Tapt1	UTSW	5	44,345,999 (GRCm39)	missense	probably damaging	1.00
R7355:Tapt1	UTSW	5	44,334,459 (GRCm39)	missense	probably benign
R7491:Tapt1	UTSW	5	44,345,978 (GRCm39)	missense	probably damaging	1.00
R8085:Tapt1	UTSW	5	44,336,307 (GRCm39)	missense	probably damaging	1.00
R8710:Tapt1	UTSW	5	44,351,743 (GRCm39)	missense	probably benign	0.16
X0062:Tapt1	UTSW	5	44,351,699 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTGACTTCACTCCATG -3'
(R):5'- AGCATTTACATAAGAGACCTGAGC -3'

Sequencing Primer
(F):5'- GGCCTTGAACTCAGAGATCTACCTG -3'
(R):5'- GACCTGAGCACTGTGAACTTTAG -3'

Posted On

2019-10-07