Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01453:Pard6a'

84694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard6a

Ensembl Gene

ENSMUSG00000005699

Gene Name

par-6 family cell polarity regulator alpha

Synonyms

Tip-40, 0710008C04Rik, PAR6alpha, TAX40, Par6c, 2610010A15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01453

Quality Score

Status

Chromosome

Chromosomal Location

106427780-106430126 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 106429309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000213019] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000212061]

AlphaFold

Q9Z101

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

Domain	Start	End	E-Value	Type
Pfam:TPP1	11	118	2.4e-23	PFAM
low complexity region	259	272	N/A	INTRINSIC
low complexity region	296	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062574

SMART Domains

Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

Domain	Start	End	E-Value	Type
Pfam:CARMIL_C	149	442	3.3e-62	PFAM
low complexity region	467	484	N/A	INTRINSIC
low complexity region	631	659	N/A	INTRINSIC
low complexity region	696	727	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093195
AA Change: L119Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699
AA Change: L119Q

Domain	Start	End	E-Value	Type
PB1	15	95	2.81e-15	SMART
PDZ	167	250	1.38e-12	SMART
low complexity region	263	286	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098444
AA Change: L103Q

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

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699
AA Change: L103Q

Domain	Start	End	E-Value	Type
PB1	4	79	1.28e-9	SMART
PDZ	151	234	1.38e-12	SMART
low complexity region	247	270	N/A	INTRINSIC
low complexity region	293	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably damaging
Transcript: ENSMUST00000211888
AA Change: L89Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212352
AA Change: L102Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212430
AA Change: L118Q

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcb5	A	G	12: 118,831,705 (GRCm39)	S1216P	probably damaging	Het
Abl1	A	G	2: 31,668,989 (GRCm39)	T104A	probably damaging	Het
Adgrg6	A	T	10: 14,296,202 (GRCm39)	M1066K	possibly damaging	Het
Armc1	T	C	3: 19,198,594 (GRCm39)	N122S	probably benign	Het
Fat1	C	T	8: 45,504,307 (GRCm39)	T4600M	probably damaging	Het
Hrh1	T	A	6: 114,458,123 (GRCm39)	I468N	probably damaging	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Macrod2	A	T	2: 140,294,492 (GRCm39)		probably benign	Het
Mfsd9	C	A	1: 40,829,638 (GRCm39)		probably benign	Het
Nap1l1	C	T	10: 111,328,839 (GRCm39)	T256I	probably benign	Het
Or12e1	A	G	2: 87,022,192 (GRCm39)	I54V	probably benign	Het
Or5h22	T	C	16: 58,895,132 (GRCm39)	I104V	probably benign	Het
Or6k4	A	G	1: 173,964,679 (GRCm39)	Y123C	possibly damaging	Het
Pmm2	G	A	16: 8,466,532 (GRCm39)	R119Q	probably damaging	Het
Por	C	T	5: 135,763,040 (GRCm39)	Q517*	probably null	Het
Ppil6	T	C	10: 41,374,473 (GRCm39)	I118T	probably benign	Het
Psg26	A	G	7: 18,213,999 (GRCm39)	V221A	possibly damaging	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Rpl27a	T	A	7: 109,118,832 (GRCm39)	V15E	probably benign	Het
Setd1b	T	C	5: 123,296,527 (GRCm39)		probably benign	Het
Slc17a1	A	G	13: 24,058,714 (GRCm39)	N56S	probably damaging	Het
Sybu	A	T	15: 44,536,201 (GRCm39)	D508E	probably damaging	Het
Tada2b	A	C	5: 36,633,686 (GRCm39)	N222K	probably damaging	Het
Tbcb	T	C	7: 29,930,627 (GRCm39)		probably null	Het
Tmprss11f	C	A	5: 86,692,691 (GRCm39)	G78*	probably null	Het
Vmn2r65	T	C	7: 84,589,708 (GRCm39)	Y736C	probably damaging	Het
Zc3h7a	G	A	16: 10,967,242 (GRCm39)	P517S	probably benign	Het
Zfp280d	A	G	9: 72,229,868 (GRCm39)	T392A	possibly damaging	Het
Zfp318	T	A	17: 46,719,942 (GRCm39)		probably null	Het

Other mutations in Pard6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pard6a	APN	8	106,429,833 (GRCm39)	missense	probably benign	0.00
IGL00236:Pard6a	APN	8	106,429,446 (GRCm39)	missense	probably damaging	1.00
IGL02044:Pard6a	APN	8	106,429,651 (GRCm39)	missense	probably damaging	0.99
R1209:Pard6a	UTSW	8	106,429,023 (GRCm39)	missense	probably benign	0.10
R5618:Pard6a	UTSW	8	106,429,546 (GRCm39)	missense	probably damaging	1.00
R6208:Pard6a	UTSW	8	106,428,866 (GRCm39)	missense	probably damaging	0.98
R8085:Pard6a	UTSW	8	106,429,642 (GRCm39)	missense	probably damaging	1.00
R8238:Pard6a	UTSW	8	106,429,366 (GRCm39)	missense	probably damaging	1.00
R8523:Pard6a	UTSW	8	106,428,881 (GRCm39)	missense	probably benign

Posted On

2013-11-11