Mutagenetix > Incidental Mutation

Incidental Mutation 'R3783:Psg27'

272120

Institutional Source

Beutler Lab

Gene Symbol

Psg27

Ensembl Gene

ENSMUSG00000070797

Gene Name

pregnancy-specific beta-1-glycoprotein 27

Synonyms

cea15, EG545925

MMRRC Submission

040875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18290439-18301230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18294279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 376 (Q376L)

Ref Sequence

ENSEMBL: ENSMUSP00000092388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094794]

AlphaFold

Q497W2

Predicted Effect

probably damaging
Transcript: ENSMUST00000094794
AA Change: Q376L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: Q376L

Domain	Start	End	E-Value	Type
IG	39	140	4.13e-5	SMART
IG	159	260	5.89e-1	SMART
IG	279	380	1.39e-2	SMART
IGc2	396	460	3.62e-10	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap6	A	G	12: 52,927,552 (GRCm39)	H154R	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Ascc3	A	G	10: 50,604,350 (GRCm39)	T1357A	probably damaging	Het
Atp13a3	A	T	16: 30,173,067 (GRCm39)	V270D	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc93	A	G	1: 121,365,598 (GRCm39)	N77S	probably damaging	Het
Cpt1b	T	C	15: 89,309,392 (GRCm39)	K47R	probably damaging	Het
Cyp4f14	A	G	17: 33,135,736 (GRCm39)	Y42H	probably benign	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Firrm	A	T	1: 163,815,252 (GRCm39)	C90S	probably benign	Het
Flnb	T	G	14: 7,889,236 (GRCm38)	W529G	probably benign	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gml	C	T	15: 74,685,521 (GRCm39)	V155M	probably damaging	Het
Gpr174	A	G	X: 106,336,670 (GRCm39)	T161A	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Isy1	T	C	6: 87,798,527 (GRCm39)	E209G	possibly damaging	Het
Kdm5b	A	G	1: 134,558,280 (GRCm39)	H1429R	probably benign	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Map3k1	C	T	13: 111,892,754 (GRCm39)	V834I	probably benign	Het
Mdn1	A	T	4: 32,720,818 (GRCm39)	E2310D	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Niban1	C	T	1: 151,565,399 (GRCm39)	S243L	possibly damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Pcdha1	T	A	18: 37,063,855 (GRCm39)	L173Q	probably damaging	Het
Pdpk1	T	C	17: 24,329,824 (GRCm39)	T71A	possibly damaging	Het
Plxna2	T	A	1: 194,489,829 (GRCm39)	V1692E	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Psmd4	T	C	3: 94,942,562 (GRCm39)	D6G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Scn10a	T	C	9: 119,520,628 (GRCm39)	T91A	probably damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Tet2	T	C	3: 133,185,124 (GRCm39)	K1182R	possibly damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Thoc5	A	G	11: 4,870,372 (GRCm39)		probably benign	Het
Tmprss9	G	T	10: 80,723,301 (GRCm39)	V254F	probably damaging	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Ttbk2	A	T	2: 120,604,296 (GRCm39)		probably benign	Het
Usf2	A	G	7: 30,655,256 (GRCm39)	V133A	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Xdh	C	T	17: 74,200,590 (GRCm39)		probably benign	Het
Xrn1	G	T	9: 95,851,338 (GRCm39)	M153I	probably benign	Het

Other mutations in Psg27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Psg27	APN	7	18,295,729 (GRCm39)	missense	probably damaging	1.00
IGL00417:Psg27	APN	7	18,295,842 (GRCm39)	missense	probably benign	0.22
IGL01344:Psg27	APN	7	18,294,342 (GRCm39)	missense	probably damaging	1.00
IGL01781:Psg27	APN	7	18,298,989 (GRCm39)	missense	probably damaging	1.00
IGL02547:Psg27	APN	7	18,294,553 (GRCm39)	missense	probably benign
IGL02926:Psg27	APN	7	18,291,054 (GRCm39)	missense	probably damaging	0.99
IGL03074:Psg27	APN	7	18,294,454 (GRCm39)	missense	probably benign	0.02
IGL03237:Psg27	APN	7	18,294,417 (GRCm39)	missense	probably benign	0.00
IGL02796:Psg27	UTSW	7	18,295,875 (GRCm39)	missense	probably benign	0.08
R0437:Psg27	UTSW	7	18,294,636 (GRCm39)	splice site	probably benign
R0604:Psg27	UTSW	7	18,290,997 (GRCm39)	missense	probably damaging	0.98
R1163:Psg27	UTSW	7	18,299,234 (GRCm39)	missense	probably damaging	0.99
R2072:Psg27	UTSW	7	18,298,934 (GRCm39)	missense	probably benign	0.16
R2072:Psg27	UTSW	7	18,294,342 (GRCm39)	missense	probably damaging	1.00
R2073:Psg27	UTSW	7	18,294,342 (GRCm39)	missense	probably damaging	1.00
R2074:Psg27	UTSW	7	18,294,342 (GRCm39)	missense	probably damaging	1.00
R2081:Psg27	UTSW	7	18,290,883 (GRCm39)	missense	probably damaging	1.00
R2206:Psg27	UTSW	7	18,301,036 (GRCm39)	nonsense	probably null
R2866:Psg27	UTSW	7	18,295,818 (GRCm39)	missense	probably benign
R3784:Psg27	UTSW	7	18,294,279 (GRCm39)	missense	probably damaging	1.00
R4463:Psg27	UTSW	7	18,291,010 (GRCm39)	missense	possibly damaging	0.46
R5312:Psg27	UTSW	7	18,290,958 (GRCm39)	missense	probably benign	0.43
R5885:Psg27	UTSW	7	18,295,711 (GRCm39)	missense	probably damaging	0.96
R6087:Psg27	UTSW	7	18,290,869 (GRCm39)	missense	probably benign	0.05
R7011:Psg27	UTSW	7	18,290,798 (GRCm39)	missense	probably benign	0.00
R7198:Psg27	UTSW	7	18,295,726 (GRCm39)	missense	probably damaging	1.00
R7381:Psg27	UTSW	7	18,301,008 (GRCm39)	missense	probably benign	0.20
R7964:Psg27	UTSW	7	18,299,124 (GRCm39)	missense	probably damaging	1.00
R8398:Psg27	UTSW	7	18,295,837 (GRCm39)	missense	probably benign	0.29
R8472:Psg27	UTSW	7	18,296,015 (GRCm39)	missense	probably benign	0.18
R8818:Psg27	UTSW	7	18,294,337 (GRCm39)	missense	probably damaging	1.00
R9345:Psg27	UTSW	7	18,299,081 (GRCm39)	missense	probably benign	0.02
X0064:Psg27	UTSW	7	18,295,720 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGACCACCCCATGTGTAC -3'
(R):5'- ATCCACAAGCCTTTTCCTGG -3'

Sequencing Primer
(F):5'- CCATGTGTACCCAGCTGTAAGTG -3'
(R):5'- CAAGCCTTTTCCTGGTACAAAGG -3'

Posted On

2015-03-25