Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Psg26'

720175

Institutional Source

Beutler Lab

Gene Symbol

Psg26

Ensembl Gene

ENSMUSG00000070799

Gene Name

pregnancy-specific beta-1-glycoprotein 26

Synonyms

EG574429, cea14

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18208507-18218102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18214087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 192 (I192V)

Ref Sequence

ENSEMBL: ENSMUSP00000092392 (fasta)

Gene Model

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

AlphaFold

Q4KL65

Predicted Effect

probably benign
Transcript: ENSMUST00000094798
AA Change: I192V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092392
Gene: ENSMUSG00000070799
AA Change: I192V

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: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	T	3: 59,772,656 (GRCm39)	M53I	probably benign	Het
Abtb1	C	T	6: 88,815,917 (GRCm39)	V185M	probably damaging	Het
Acod1	A	T	14: 103,292,294 (GRCm39)	S273C	probably benign	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Anks1	T	C	17: 28,270,748 (GRCm39)	L845P	probably damaging	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Cand2	G	A	6: 115,759,757 (GRCm39)	A143T	probably benign	Het
Cep290	A	T	10: 100,380,841 (GRCm39)	H116L	probably benign	Het
Chd9	G	A	8: 91,683,186 (GRCm39)	R542H	unknown	Het
Crnkl1	T	C	2: 145,772,550 (GRCm39)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,624,805 (GRCm39)	E3744G	probably damaging	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat3	A	T	9: 15,911,142 (GRCm39)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,767,647 (GRCm39)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Gmip	T	C	8: 70,273,381 (GRCm39)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Intu	G	A	3: 40,608,536 (GRCm39)	V183I	probably benign	Het
Ipo4	A	G	14: 55,870,789 (GRCm39)		probably null	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,633,812 (GRCm39)	A188P	probably benign	Het
Lipc	T	C	9: 70,728,146 (GRCm39)	D104G	unknown	Het
Lrrc63	A	T	14: 75,344,828 (GRCm39)	L420M	probably damaging	Het
Ly75	C	A	2: 60,161,069 (GRCm39)		probably null	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,779,855 (GRCm39)	I78T	possibly damaging	Het
Npepl1	A	G	2: 173,962,030 (GRCm39)	D304G	probably null	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or2n1d	G	T	17: 38,646,341 (GRCm39)	V98F	possibly damaging	Het
Or5k3	T	C	16: 58,970,107 (GRCm39)	I298T	possibly damaging	Het
Or8g24	G	A	9: 38,989,927 (GRCm39)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,709,506 (GRCm39)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Phf10	A	G	17: 15,166,459 (GRCm39)		probably null	Het
Phgdh	A	G	3: 98,241,950 (GRCm39)	S55P	probably damaging	Het
Poll	G	T	19: 45,546,359 (GRCm39)	P227H	probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Rpgrip1l	T	C	8: 91,977,873 (GRCm39)	D1038G	probably benign	Het
Snx18	A	G	13: 113,753,754 (GRCm39)	M393T	possibly damaging	Het
Srsf11	A	G	3: 157,717,735 (GRCm39)	C448R	unknown	Het
Sv2c	A	G	13: 96,185,008 (GRCm39)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,253,591 (GRCm39)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,116,810 (GRCm39)	D114V	probably damaging	Het
Trpm2	A	G	10: 77,748,467 (GRCm39)	V1401A	probably benign	Het
Ttll6	T	C	11: 96,049,588 (GRCm39)	S769P	probably benign	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,347,251 (GRCm39)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,283,455 (GRCm39)	D46V	probably damaging	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Zfp266	A	G	9: 20,411,746 (GRCm39)	S144P	probably benign	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
R7857:Psg26	UTSW	7	18,212,215 (GRCm39)	missense	possibly damaging	0.71
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
Z1177:Psg26	UTSW	7	18,214,216 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGATATCGAGTCAGAGTTCGTAG -3'
(R):5'- AACAGCTGCTCAGGACACAG -3'

Sequencing Primer
(F):5'- CAGAGTTCGTAGGGTGTAGAATCC -3'
(R):5'- ACACAGGGTGCCATCCTAG -3'

Posted On

2022-07-18