Mutagenetix > Incidental Mutation

Incidental Mutation 'R6428:Pasd1'

518407

Institutional Source

Beutler Lab

Gene Symbol

Pasd1

Ensembl Gene

ENSMUSG00000073130

Gene Name

PAS domain containing repressor 1

Synonyms

Gm1141, LOC382221

MMRRC Submission

044421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6428 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

70976044-70984477 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC to CATCTTTACCATCATGTCAAGTATCTTTACC at 70983126 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101495]

AlphaFold

J9JI72

Predicted Effect

probably benign
Transcript: ENSMUST00000101495

SMART Domains

Protein: ENSMUSP00000099034
Gene: ENSMUSG00000073130

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	48	73	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
low complexity region	284	291	N/A	INTRINSIC
low complexity region	419	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154780

SMART Domains

Protein: ENSMUSP00000114284
Gene: ENSMUSG00000073130

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
low complexity region	90	105	N/A	INTRINSIC
low complexity region	110	135	N/A	INTRINSIC
low complexity region	209	225	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Cts6	T	G	13: 61,344,237 (GRCm39)	N272H	probably damaging	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Dhx9	C	T	1: 153,332,324 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,770,748 (GRCm39)	N106S	probably damaging	Het
Hdlbp	T	C	1: 93,359,167 (GRCm39)	D175G	possibly damaging	Het
Hectd4	A	G	5: 121,488,508 (GRCm39)	K3600E	possibly damaging	Het
Hspa13	A	T	16: 75,554,874 (GRCm39)	L404Q	probably damaging	Het
Iws1	A	G	18: 32,219,343 (GRCm39)	D475G	probably damaging	Het
Klhdc10	T	C	6: 30,439,855 (GRCm39)	S13P	probably damaging	Het
Lepr	C	T	4: 101,637,295 (GRCm39)	T728I	probably damaging	Het
Ncapd3	A	G	9: 26,963,960 (GRCm39)		probably null	Het
Phb2	A	G	6: 124,692,954 (GRCm39)	D276G	probably benign	Het
Prrc2b	A	G	2: 32,116,508 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,136,100 (GRCm39)	K604R	probably damaging	Het
Rp1l1	T	A	14: 64,269,838 (GRCm39)	M1808K	possibly damaging	Het
Setd3	T	C	12: 108,079,597 (GRCm39)	D302G	probably damaging	Het
Slc38a10	T	A	11: 119,996,298 (GRCm39)	Q933L	probably benign	Het
Slco1a1	A	G	6: 141,871,416 (GRCm39)	L250S	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r26	A	G	6: 124,003,039 (GRCm39)	I150V	probably benign	Het
Zfp318	C	T	17: 46,710,262 (GRCm39)	R662C	probably damaging	Het

Other mutations in Pasd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0128:Pasd1	UTSW	X	70,983,161 (GRCm39)	missense	possibly damaging	0.83
R0130:Pasd1	UTSW	X	70,983,161 (GRCm39)	missense	possibly damaging	0.83
R0131:Pasd1	UTSW	X	70,983,161 (GRCm39)	missense	possibly damaging	0.83
R0629:Pasd1	UTSW	X	70,982,379 (GRCm39)	missense	possibly damaging	0.90
R4156:Pasd1	UTSW	X	70,983,161 (GRCm39)	missense	possibly damaging	0.83
R4157:Pasd1	UTSW	X	70,983,161 (GRCm39)	missense	possibly damaging	0.83
R4416:Pasd1	UTSW	X	70,983,225 (GRCm39)	missense	possibly damaging	0.83
R4417:Pasd1	UTSW	X	70,983,225 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGTTACATGCTGTGAAGAGCC -3'
(R):5'- ATACTTGACGTGAAGTTGTCGAAG -3'

Sequencing Primer
(F):5'- CCCGGATCAGATTATATGCAGCATG -3'
(R):5'- AGGTTGACGTGACACTGC -3'

Posted On

2018-05-24