Mutagenetix > Incidental Mutation

Incidental Mutation 'R8918:Erh'

679068

Institutional Source

Beutler Lab

Gene Symbol

Erh

Ensembl Gene

ENSMUSG00000021131

Gene Name

ERH mRNA splicing and mitosis factor

Synonyms

Prei1, Mer

MMRRC Submission

068705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80680799-80690616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80684282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 65 (A65E)

Ref Sequence

ENSEMBL: ENSMUSP00000021559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021559] [ENSMUST00000166931] [ENSMUST00000218364] [ENSMUST00000218740]

AlphaFold

P84089

PDB Structure

Solution Structure of Mouse ER [SOLUTION NMR]
Crystal structure of enhancer of rudimentary homologue (ERH) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000021559
AA Change: A65E

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

SMART Domains

Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131
AA Change: A65E

Domain	Start	End	E-Value	Type
Pfam:ER	1	103	9.9e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166931
AA Change: A84E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131
AA Change: A84E

Domain	Start	End	E-Value	Type
Pfam:ER	21	118	4.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218364
AA Change: A65E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000218740
AA Change: A65E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,333,315 (GRCm39)	F480L	probably damaging	Het
Actr6	A	T	10: 89,553,057 (GRCm39)	I267N	probably damaging	Het
Ank2	A	G	3: 126,737,380 (GRCm39)	S2835P	unknown	Het
Arfgef3	C	T	10: 18,511,453 (GRCm39)	R753Q	probably benign	Het
Arid3a	A	G	10: 79,784,765 (GRCm39)	T285A	probably benign	Het
Atad5	T	C	11: 79,986,473 (GRCm39)	V520A	probably benign	Het
Atoh1	T	G	6: 64,707,241 (GRCm39)	L312R	probably damaging	Het
Brd10	T	C	19: 29,696,841 (GRCm39)	K884R	possibly damaging	Het
Cpt1a	T	C	19: 3,408,258 (GRCm39)	V179A		Het
Crocc2	C	A	1: 93,129,144 (GRCm39)	N816K	possibly damaging	Het
Csf2ra	A	T	19: 61,214,721 (GRCm39)	V201D	probably damaging	Het
Dok1	C	T	6: 83,008,324 (GRCm39)	V453I	probably benign	Het
Elp4	A	G	2: 105,662,600 (GRCm39)	S175P	probably benign	Het
Etl4	G	A	2: 20,748,733 (GRCm39)	S357N	probably benign	Het
Etl4	A	G	2: 20,811,246 (GRCm39)	T1478A	probably benign	Het
Gabra1	A	G	11: 42,026,320 (GRCm39)	F324S	probably damaging	Het
Gm11437	T	C	11: 84,043,530 (GRCm39)	T254A	probably benign	Het
Gria2	T	C	3: 80,599,706 (GRCm39)	E726G	probably damaging	Het
Gstm2	A	T	3: 107,892,382 (GRCm39)	C115S	possibly damaging	Het
Ighv1-12	T	C	12: 114,579,553 (GRCm39)	T90A	probably damaging	Het
Inf2	A	G	12: 112,572,703 (GRCm39)	I690V	unknown	Het
Kdm3b	A	G	18: 34,970,650 (GRCm39)	N1739S	probably damaging	Het
Lrp1b	A	T	2: 40,615,893 (GRCm39)	N3614K		Het
Mapk8ip3	A	G	17: 25,131,727 (GRCm39)	L404P	probably damaging	Het
Mcl1	T	C	3: 95,567,192 (GRCm39)	F251S	probably damaging	Het
Mdn1	T	A	4: 32,744,579 (GRCm39)	L4038*	probably null	Het
Mmp8	T	C	9: 7,561,485 (GRCm39)	V163A	probably benign	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Ndst1	C	T	18: 60,825,083 (GRCm39)	R745H	probably benign	Het
Or4d2b	A	G	11: 87,780,284 (GRCm39)	V146A	probably benign	Het
Or8c18	T	C	9: 38,203,385 (GRCm39)	F48S	probably benign	Het
Pard3	C	T	8: 128,098,011 (GRCm39)	R351C	probably benign	Het
Pcdhgb4	A	G	18: 37,855,648 (GRCm39)	D681G	probably damaging	Het
Pde10a	G	A	17: 9,160,063 (GRCm39)	A163T	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pelp1	A	G	11: 70,296,505 (GRCm39)	L123S	probably damaging	Het
Plekhh2	A	G	17: 84,906,621 (GRCm39)	D1152G	possibly damaging	Het
Rag1	T	C	2: 101,472,098 (GRCm39)	T1015A	probably benign	Het
Rock2	C	T	12: 16,990,422 (GRCm39)	Q115*	probably null	Het
Rorb	T	A	19: 18,915,356 (GRCm39)	H434L	probably damaging	Het
Safb2	A	T	17: 56,882,975 (GRCm39)	C219*	probably null	Het
Sema3a	A	G	5: 13,573,099 (GRCm39)	H209R	probably damaging	Het
Serpinb9g	T	G	13: 33,679,131 (GRCm39)	S334A	probably benign	Het
Slc5a9	T	A	4: 111,741,147 (GRCm39)	M500L	probably benign	Het
Snap91	A	G	9: 86,651,611 (GRCm39)	S810P	unknown	Het
Spink5	G	T	18: 44,100,087 (GRCm39)	A35S	probably damaging	Het
Stxbp5l	G	A	16: 36,954,892 (GRCm39)	T887I		Het
Tacc2	T	C	7: 130,227,823 (GRCm39)	F1503L	probably benign	Het
Tectb	A	G	19: 55,180,000 (GRCm39)	E272G	probably damaging	Het
Trdn	A	T	10: 33,015,117 (GRCm39)	I24F	probably benign	Het
Tshr	G	A	12: 91,504,211 (GRCm39)	S383N	probably benign	Het
Tspan1	C	A	4: 116,020,970 (GRCm39)	C149F	probably damaging	Het
Ttn	A	T	2: 76,570,862 (GRCm39)	L26677Q	probably damaging	Het
Ush2a	T	A	1: 188,270,017 (GRCm39)	F1755I	possibly damaging	Het
Vps13d	T	A	4: 144,772,873 (GRCm39)	I4047F		Het
Zfp1010	A	C	2: 176,958,551 (GRCm39)	S29R	probably benign	Het
Zfp369	T	A	13: 65,443,529 (GRCm39)	L336*	probably null	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp984	T	C	4: 147,840,623 (GRCm39)	H76R	possibly damaging	Het
Zscan10	G	A	17: 23,826,116 (GRCm39)	G138S	probably benign	Het

Other mutations in Erh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2198:Erh	UTSW	12	80,689,559 (GRCm39)	unclassified	probably benign
R4335:Erh	UTSW	12	80,689,615 (GRCm39)	missense	probably benign	0.18
R7466:Erh	UTSW	12	80,687,757 (GRCm39)	missense	probably benign	0.10
R7679:Erh	UTSW	12	80,684,345 (GRCm39)	missense	probably benign	0.25
R8039:Erh	UTSW	12	80,684,352 (GRCm39)	missense	probably damaging	1.00
R8912:Erh	UTSW	12	80,684,282 (GRCm39)	missense	probably benign	0.01
R8914:Erh	UTSW	12	80,684,282 (GRCm39)	missense	probably benign	0.01
R8917:Erh	UTSW	12	80,684,282 (GRCm39)	missense	probably benign	0.01
R8968:Erh	UTSW	12	80,684,282 (GRCm39)	missense	probably benign	0.01
R9557:Erh	UTSW	12	80,689,571 (GRCm39)	missense	probably benign
Z1176:Erh	UTSW	12	80,689,578 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GGACTATCCCACACAACGTG -3'
(R):5'- CACAGAAATTAAAGTGGCCAGC -3'

Sequencing Primer
(F):5'- ACAACGTGGAGCCCGTCTATC -3'
(R):5'- AGCCAGCAGTCCTTTTCCAGG -3'

Posted On

2021-08-02