Mutagenetix > Incidental Mutation

Incidental Mutation 'R7857:Psg26'

607277

Institutional Source

Beutler Lab

Gene Symbol

Psg26

Ensembl Gene

ENSMUSG00000070799

Gene Name

pregnancy-specific beta-1-glycoprotein 26

Synonyms

EG574429, cea14

MMRRC Submission

045910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7857 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18208507-18218102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18212215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 380 (I380T)

Ref Sequence

ENSEMBL: ENSMUSP00000092392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094798]

AlphaFold

Q4KL65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094798
AA Change: I380T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092392
Gene: ENSMUSG00000070799
AA Change: I380T

Domain	Start	End	E-Value	Type
IG	40	141	4.93e-3	SMART
IG	160	261	2.39e-1	SMART
IG	280	379	6.07e-3	SMART
IGc2	397	461	5.48e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,454,104 (GRCm39)	N307I	probably benign	Het
Ahnak	G	A	19: 8,984,832 (GRCm39)	V2039M	probably damaging	Het
Arhgef40	T	A	14: 52,226,212 (GRCm39)	H85Q	probably damaging	Het
Ash1l	T	A	3: 88,891,616 (GRCm39)	L1165*	probably null	Het
Cck	A	G	9: 121,322,514 (GRCm39)	W100R	probably damaging	Het
Cdon	A	G	9: 35,367,908 (GRCm39)	R268G	possibly damaging	Het
Cldn12	T	C	5: 5,558,209 (GRCm39)	T73A	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Cyp2b13	T	A	7: 25,788,153 (GRCm39)	L427Q	possibly damaging	Het
Dnah3	A	T	7: 119,550,927 (GRCm39)	Y152N	probably damaging	Het
Dsg1b	A	T	18: 20,529,520 (GRCm39)	M322L	probably benign	Het
Efhc1	T	C	1: 21,045,226 (GRCm39)	M414T	probably benign	Het
Elp3	G	A	14: 65,800,759 (GRCm39)	T302M	probably benign	Het
Entpd6	T	C	2: 150,607,473 (GRCm39)		probably null	Het
Epb41l4a	G	T	18: 34,139,098 (GRCm39)	C13*	probably null	Het
Ephb6	T	C	6: 41,590,331 (GRCm39)	S28P	probably benign	Het
Fbxo21	T	C	5: 118,126,878 (GRCm39)	S210P	probably benign	Het
Gapvd1	T	A	2: 34,619,079 (GRCm39)	E98V	probably benign	Het
Gcdh	A	G	8: 85,619,093 (GRCm39)	V157A	probably damaging	Het
Gm10638	G	T	8: 87,472,891 (GRCm39)	R188L	unknown	Het
Grk3	T	C	5: 113,109,427 (GRCm39)	T177A	unknown	Het
Gsc	T	G	12: 104,438,424 (GRCm39)	E148A	probably damaging	Het
Hacd4	C	T	4: 88,355,702 (GRCm39)	G61E	probably damaging	Het
Herc3	G	A	6: 58,820,637 (GRCm39)	W7*	probably null	Het
Il1rl2	T	C	1: 40,366,642 (GRCm39)	Y59H	probably benign	Het
Irag1	T	A	7: 110,522,742 (GRCm39)	K234*	probably null	Het
Kif1c	A	G	11: 70,619,103 (GRCm39)	T913A	probably benign	Het
Lipg	C	T	18: 75,078,891 (GRCm39)	G454R	probably damaging	Het
Lrrc74a	A	G	12: 86,788,485 (GRCm39)	D155G	probably benign	Het
Ltf	A	T	9: 110,851,444 (GRCm39)	I137F	probably benign	Het
Med19	T	A	2: 84,515,969 (GRCm39)	M166K	probably damaging	Het
Mei1	A	T	15: 81,976,918 (GRCm39)	Y167F	not run	Het
Ncaph	A	C	2: 126,946,165 (GRCm39)	D724E	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Npffr1	G	T	10: 61,449,765 (GRCm39)	W13L	probably benign	Het
Or51b6	A	T	7: 103,555,817 (GRCm39)	H54L		Het
Pcdha12	A	T	18: 37,155,468 (GRCm39)	D729V	probably benign	Het
Pcdha7	A	T	18: 37,108,892 (GRCm39)	E639V	probably damaging	Het
Pcdhb18	A	T	18: 37,624,364 (GRCm39)	M565L	probably benign	Het
Plcd3	A	T	11: 102,968,760 (GRCm39)	D310E	probably benign	Het
Pmm2	C	G	16: 8,460,632 (GRCm39)	Q29E	probably benign	Het
Poli	T	G	18: 70,642,225 (GRCm39)	E658D	probably benign	Het
Prss22	G	A	17: 24,212,853 (GRCm39)	R295C	probably damaging	Het
Reep5	A	T	18: 34,505,521 (GRCm39)	V50E	possibly damaging	Het
Rfx7	A	G	9: 72,500,605 (GRCm39)	T122A	possibly damaging	Het
Robo1	A	G	16: 72,767,099 (GRCm39)	N424D	probably damaging	Het
Slc4a7	T	C	14: 14,772,624 (GRCm38)	V711A	probably benign	Het
Smc4	T	C	3: 68,940,552 (GRCm39)	V1162A	possibly damaging	Het
Snta1	A	T	2: 154,225,817 (GRCm39)	L189H	probably benign	Het
Tmem121	C	T	12: 113,152,696 (GRCm39)	R305C	possibly damaging	Het
Tmem68	A	G	4: 3,551,825 (GRCm39)	V271A	probably damaging	Het
Tmx4	T	G	2: 134,481,582 (GRCm39)	M114L	probably benign	Het
Trps1	T	A	15: 50,524,401 (GRCm39)	R1176S	probably damaging	Het
Usp21	A	G	1: 171,114,335 (GRCm39)	L63P	probably benign	Het
Vmn2r84	T	A	10: 130,226,738 (GRCm39)	M367L	probably benign	Het
Wbp2nl	A	G	15: 82,190,273 (GRCm39)	N67S	probably benign	Het
Wdr35	T	C	12: 9,058,113 (GRCm39)		probably null	Het
Zfp236	G	A	18: 82,686,726 (GRCm39)	Q271*	probably null	Het
Zfp831	T	C	2: 174,547,035 (GRCm39)	V1406A	probably benign	Het
Zfp934	G	A	13: 62,665,361 (GRCm39)	H459Y		Het

Other mutations in Psg26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Psg26	APN	7	18,212,255 (GRCm39)	missense	possibly damaging	0.83
IGL01383:Psg26	APN	7	18,214,179 (GRCm39)	missense	possibly damaging	0.90
IGL01453:Psg26	APN	7	18,213,999 (GRCm39)	missense	possibly damaging	0.91
IGL01603:Psg26	APN	7	18,209,028 (GRCm39)	missense	probably damaging	0.98
IGL02201:Psg26	APN	7	18,214,071 (GRCm39)	missense	probably benign	0.04
IGL02468:Psg26	APN	7	18,212,387 (GRCm39)	missense	probably damaging	0.96
IGL02648:Psg26	APN	7	18,216,691 (GRCm39)	missense	probably benign	0.05
IGL02812:Psg26	APN	7	18,209,080 (GRCm39)	missense	probably benign	0.00
R0226:Psg26	UTSW	7	18,217,883 (GRCm39)	missense	possibly damaging	0.81
R0352:Psg26	UTSW	7	18,209,181 (GRCm39)	missense	probably benign	0.00
R0369:Psg26	UTSW	7	18,216,481 (GRCm39)	nonsense	probably null
R0718:Psg26	UTSW	7	18,212,212 (GRCm39)	missense	probably benign	0.18
R0718:Psg26	UTSW	7	18,209,160 (GRCm39)	missense	probably benign	0.23
R1710:Psg26	UTSW	7	18,213,966 (GRCm39)	missense	probably damaging	0.99
R1899:Psg26	UTSW	7	18,212,350 (GRCm39)	missense	probably benign	0.01
R1958:Psg26	UTSW	7	18,212,264 (GRCm39)	missense	probably benign	0.04
R2102:Psg26	UTSW	7	18,209,067 (GRCm39)	missense	probably damaging	1.00
R3766:Psg26	UTSW	7	18,208,996 (GRCm39)	missense	probably benign
R4544:Psg26	UTSW	7	18,212,464 (GRCm39)	missense	probably damaging	1.00
R4977:Psg26	UTSW	7	18,209,235 (GRCm39)	missense	probably benign	0.11
R5000:Psg26	UTSW	7	18,214,057 (GRCm39)	missense	possibly damaging	0.95
R5376:Psg26	UTSW	7	18,214,030 (GRCm39)	missense	probably benign
R5416:Psg26	UTSW	7	18,216,525 (GRCm39)	missense	probably benign
R5435:Psg26	UTSW	7	18,212,398 (GRCm39)	missense	possibly damaging	0.60
R6000:Psg26	UTSW	7	18,216,617 (GRCm39)	nonsense	probably null
R6285:Psg26	UTSW	7	18,216,753 (GRCm39)	missense	probably benign
R7062:Psg26	UTSW	7	18,216,521 (GRCm39)	missense	probably damaging	1.00
R7083:Psg26	UTSW	7	18,213,934 (GRCm39)	nonsense	probably null
R7513:Psg26	UTSW	7	18,209,225 (GRCm39)	missense	probably benign	0.03
R7817:Psg26	UTSW	7	18,216,572 (GRCm39)	missense	not run
R7905:Psg26	UTSW	7	18,209,242 (GRCm39)	missense	probably benign	0.00
R8047:Psg26	UTSW	7	18,212,474 (GRCm39)	missense	possibly damaging	0.50
R8789:Psg26	UTSW	7	18,216,494 (GRCm39)	missense	probably damaging	1.00
R8877:Psg26	UTSW	7	18,217,865 (GRCm39)	missense	probably benign	0.01
R9012:Psg26	UTSW	7	18,216,596 (GRCm39)	missense	probably benign	0.19
R9203:Psg26	UTSW	7	18,212,382 (GRCm39)	missense	probably damaging	0.98
R9327:Psg26	UTSW	7	18,216,480 (GRCm39)	missense	probably damaging	1.00
R9547:Psg26	UTSW	7	18,214,087 (GRCm39)	missense	probably benign	0.00
Z1177:Psg26	UTSW	7	18,214,216 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGTGAAGGGTTCTGACCTAATG -3'
(R):5'- TGGTACAAAGGTGTGCTTAGC -3'

Sequencing Primer
(F):5'- GGTGTTGGTACAGCCCATG -3'
(R):5'- GCACTCAGGACTTTAAAATTGCAG -3'

Posted On

2019-12-20