Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Gsg1l2'

680795

Institutional Source

Beutler Lab

Gene Symbol

Gsg1l2

Ensembl Gene

ENSMUSG00000097886

Gene Name

GSG1-like 2

Synonyms

Gm12302

MMRRC Submission

068711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R8938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67665434-67680724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67680399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 278 (H278R)

Ref Sequence

ENSEMBL: ENSMUSP00000137895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000155317] [ENSMUST00000181566]

AlphaFold

M0QWL6

Predicted Effect

probably benign
Transcript: ENSMUST00000155317

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181566
AA Change: H278R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137895
Gene: ENSMUSG00000097886
AA Change: H278R

Domain	Start	End	E-Value	Type
Pfam:GSG-1	2	120	2.9e-38	PFAM
Pfam:Claudin_2	16	225	3.4e-14	PFAM
Pfam:PMP22_Claudin	68	223	3e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,861,424 (GRCm39)	S59P	probably damaging	Het
Abcc8	G	T	7: 45,816,418 (GRCm39)	H241N		Het
Acsm1	T	C	7: 119,258,385 (GRCm39)	S493P	probably damaging	Het
Agtr1a	T	C	13: 30,565,049 (GRCm39)	I38T	probably damaging	Het
Ahnak	T	C	19: 8,989,099 (GRCm39)	I3461T	probably benign	Het
Bbox1	T	A	2: 110,100,529 (GRCm39)	T223S	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cdhr1	T	A	14: 36,809,405 (GRCm39)	T299S	probably benign	Het
Cr2	T	C	1: 194,853,424 (GRCm39)	D18G	probably damaging	Het
Cyp51	T	C	5: 4,150,202 (GRCm39)	I174V	probably benign	Het
Dnah2	A	T	11: 69,328,754 (GRCm39)	Y3290N	probably damaging	Het
Fcho1	T	G	8: 72,169,790 (GRCm39)	K111T	possibly damaging	Het
Firrm	C	T	1: 163,789,541 (GRCm39)	V665I	probably benign	Het
Gli2	A	T	1: 118,763,935 (GRCm39)	D1405E	probably damaging	Het
H2-K2	T	C	17: 34,216,294 (GRCm39)	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,350,735 (GRCm39)	W5*	probably null	Het
Ighv1-81	T	A	12: 115,883,988 (GRCm39)	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,553,256 (GRCm39)	M19L	probably benign	Het
Klk1b3	G	T	7: 43,849,729 (GRCm39)	W38L	probably damaging	Het
Lama3	T	C	18: 12,689,762 (GRCm39)	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,028,024 (GRCm39)	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,748,454 (GRCm39)	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,270 (GRCm39)	M1L	possibly damaging	Het
Mrpl2	T	A	17: 46,957,238 (GRCm39)		probably benign	Het
Mybpc3	T	C	2: 90,954,294 (GRCm39)	V224A	probably damaging	Het
Nol4l	T	C	2: 153,262,651 (GRCm39)	D63G	probably damaging	Het
Or8g36	A	T	9: 39,422,910 (GRCm39)	Y35*	probably null	Het
Patz1	C	T	11: 3,240,660 (GRCm39)	T16I	probably damaging	Het
Pcdha3	A	G	18: 37,080,154 (GRCm39)	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,623,537 (GRCm39)	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,841,562 (GRCm39)	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,859,955 (GRCm39)	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,016,068 (GRCm39)	W877R	probably benign	Het
Plcg2	T	C	8: 118,231,114 (GRCm39)		probably null	Het
Prp2	C	A	6: 132,577,581 (GRCm39)	H289Q	unknown	Het
Rac2	A	G	15: 78,446,112 (GRCm39)	L192P	probably damaging	Het
Rfx4	T	A	10: 84,675,936 (GRCm39)	Y51N	probably damaging	Het
Rptn	A	T	3: 93,302,332 (GRCm39)	Q16L	possibly damaging	Het
Ryr1	C	T	7: 28,801,358 (GRCm39)	G802D	probably damaging	Het
Shroom3	T	C	5: 93,090,930 (GRCm39)	S1146P	probably damaging	Het
Stam	T	C	2: 14,133,984 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,751,825 (GRCm39)	M623V	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Xkr7	T	C	2: 152,874,133 (GRCm39)	F67L	probably damaging	Het
Zfp451	A	T	1: 33,842,063 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,610,311 (GRCm39)	H471Q	possibly damaging	Het

Other mutations in Gsg1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5318:Gsg1l2	UTSW	11	67,673,347 (GRCm39)	missense	possibly damaging	0.82
R5912:Gsg1l2	UTSW	11	67,665,540 (GRCm39)	splice site	probably null
R6008:Gsg1l2	UTSW	11	67,665,537 (GRCm39)	missense	possibly damaging	0.87
R6564:Gsg1l2	UTSW	11	67,677,330 (GRCm39)	missense	possibly damaging	0.47
R6829:Gsg1l2	UTSW	11	67,665,684 (GRCm39)	missense	possibly damaging	0.48
R7468:Gsg1l2	UTSW	11	67,676,110 (GRCm39)	missense	possibly damaging	0.56
R7479:Gsg1l2	UTSW	11	67,676,032 (GRCm39)	missense	probably benign	0.39
R7592:Gsg1l2	UTSW	11	67,665,584 (GRCm39)	missense	probably benign	0.25
R7827:Gsg1l2	UTSW	11	67,676,097 (GRCm39)	missense	probably benign	0.40
R9572:Gsg1l2	UTSW	11	67,677,301 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGGCGACCATGAGCAGATAC -3'
(R):5'- ACGACAATGTTCCTTTATAGTGGG -3'

Sequencing Primer
(F):5'- TGAGCAGATACACCACAGC -3'
(R):5'- CCTTTAAAGACACAGGAATTGTAGG -3'

Posted On

2021-08-31