Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Eeig1'

178681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eeig1

Ensembl Gene

ENSMUSG00000039157

Gene Name

estrogen-induced osteoclastogenesis regulator 1

Synonyms

C230093N12Rik, Fam102a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

32425344-32459763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32456294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 319 (S319P)

Ref Sequence

ENSEMBL: ENSMUSP00000044731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000140592]

AlphaFold

Q78T81

Predicted Effect

probably benign
Transcript: ENSMUST00000028151

SMART Domains

Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	80	4.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048375
AA Change: S319P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157
AA Change: S319P

Domain	Start	End	E-Value	Type
Pfam:NT-C2	6	152	4.8e-32	PFAM
low complexity region	177	194	N/A	INTRINSIC
low complexity region	262	273	N/A	INTRINSIC
low complexity region	283	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136816

Predicted Effect

probably benign
Transcript: ENSMUST00000140592

SMART Domains

Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	68	3e-30	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	probably damaging	Het

Other mutations in Eeig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02289:Eeig1	APN	2	32,456,367 (GRCm39)	missense	possibly damaging	0.87
R0051:Eeig1	UTSW	2	32,448,065 (GRCm39)	missense	possibly damaging	0.87
R0051:Eeig1	UTSW	2	32,448,065 (GRCm39)	missense	possibly damaging	0.87
R1387:Eeig1	UTSW	2	32,455,635 (GRCm39)	missense	possibly damaging	0.92
R1887:Eeig1	UTSW	2	32,450,140 (GRCm39)	missense	possibly damaging	0.63
R3732:Eeig1	UTSW	2	32,456,304 (GRCm39)	missense	probably benign	0.00
R5528:Eeig1	UTSW	2	32,456,339 (GRCm39)	missense	probably damaging	1.00
R6058:Eeig1	UTSW	2	32,450,102 (GRCm39)	missense	probably benign	0.05
R7241:Eeig1	UTSW	2	32,448,076 (GRCm39)	missense	probably benign	0.45
R7623:Eeig1	UTSW	2	32,456,346 (GRCm39)	missense	possibly damaging	0.66
R8169:Eeig1	UTSW	2	32,453,760 (GRCm39)	missense	probably benign	0.22
R8176:Eeig1	UTSW	2	32,453,624 (GRCm39)	missense	probably benign	0.20
R9072:Eeig1	UTSW	2	32,455,674 (GRCm39)	missense	probably benign	0.09

Posted On

2014-05-07