Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Tjap1'

254133

Institutional Source

Beutler Lab

Gene Symbol

Tjap1

Ensembl Gene

ENSMUSG00000012296

Gene Name

tight junction associated protein 1

Synonyms

Tjp4, 0610041D19Rik, Pilt

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46568777-46593952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46571021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 165 (N165K)

Ref Sequence

ENSEMBL: ENSMUSP00000153632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000225080] [ENSMUST00000225413] [ENSMUST00000225943] [ENSMUST00000224901] [ENSMUST00000225288] [ENSMUST00000225359]

AlphaFold

Q9DCD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000012440
AA Change: N155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: N155K

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	256	450	3.7e-83	PFAM
Pfam:Pilt	441	538	5.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095262

SMART Domains

Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073

Domain	Start	End	E-Value	Type
LRR	27	54	2.42e1	SMART
LRR	84	111	3.47e1	SMART
LRR	112	139	1.84e0	SMART
LRR	143	171	1.66e2	SMART
LRR	172	199	5.41e0	SMART
LRR	200	227	3.54e0	SMART
LRR	229	256	5.48e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164342
AA Change: N155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: N155K

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	262	447	1.5e-59	PFAM
Pfam:Pilt	442	538	1.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180283
AA Change: N155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: N155K

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	256	450	3.7e-83	PFAM
Pfam:Pilt	441	538	5.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224090

Predicted Effect

probably benign
Transcript: ENSMUST00000224230

Predicted Effect

probably damaging
Transcript: ENSMUST00000225080
AA Change: N155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225413
AA Change: N165K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225915

Predicted Effect

probably benign
Transcript: ENSMUST00000225943

Predicted Effect

probably benign
Transcript: ENSMUST00000224901

Predicted Effect

probably benign
Transcript: ENSMUST00000225288

Predicted Effect

probably benign
Transcript: ENSMUST00000225359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,900,954 (GRCm39)	Y663*	probably null	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Klk1	T	C	7: 43,870,161 (GRCm39)		probably null	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,188,310 (GRCm39)	H134Q	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,607,036 (GRCm39)	I253K	probably damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Tst	T	C	15: 78,290,033 (GRCm39)	M1V	probably null	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	Het

Other mutations in Tjap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
I0000:Tjap1	UTSW	17	46,569,955 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Tjap1	UTSW	17	46,572,432 (GRCm39)	missense	probably benign	0.09
R0087:Tjap1	UTSW	17	46,574,652 (GRCm39)	missense	probably damaging	1.00
R0930:Tjap1	UTSW	17	46,569,455 (GRCm39)	missense	possibly damaging	0.94
R1513:Tjap1	UTSW	17	46,572,368 (GRCm39)	missense	probably benign	0.01
R1885:Tjap1	UTSW	17	46,573,347 (GRCm39)	missense	probably damaging	1.00
R4523:Tjap1	UTSW	17	46,569,718 (GRCm39)	missense	probably benign
R4552:Tjap1	UTSW	17	46,570,953 (GRCm39)	splice site	probably null
R5452:Tjap1	UTSW	17	46,571,101 (GRCm39)	missense	probably damaging	0.99
R5590:Tjap1	UTSW	17	46,569,797 (GRCm39)	missense	probably damaging	1.00
R6600:Tjap1	UTSW	17	46,570,924 (GRCm39)	missense	probably damaging	1.00
R7015:Tjap1	UTSW	17	46,574,700 (GRCm39)	missense	possibly damaging	0.87
R7790:Tjap1	UTSW	17	46,569,616 (GRCm39)	missense	probably benign	0.00
R8353:Tjap1	UTSW	17	46,593,530 (GRCm39)	intron	probably benign
R9513:Tjap1	UTSW	17	46,569,733 (GRCm39)	missense	probably damaging	1.00
R9661:Tjap1	UTSW	17	46,571,092 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGACACAATCCTGAAGCGG -3'
(R):5'- TAGCACCTGTGGCCTTATGTC -3'

Sequencing Primer
(F):5'- AATCCTGAAGCGGCGGGAC -3'
(R):5'- CCTTATGTCTCTGGCTAGGAGAG -3'

Posted On

2014-12-04