Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Elmsan1'

698469

Institutional Source

Beutler Lab

Gene Symbol

Elmsan1

Ensembl Gene

ENSMUSG00000042507

Gene Name

ELM2 and Myb/SANT-like domain containing 1

Synonyms

9430029N19Rik, C130039O16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84149176-84218881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84152887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 1020 (F1020V)

Ref Sequence

ENSEMBL: ENSMUSP00000048120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046266] [ENSMUST00000061425] [ENSMUST00000110294] [ENSMUST00000220974]

AlphaFold

E9Q2I4

Predicted Effect

probably benign
Transcript: ENSMUST00000046266
AA Change: F1020V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: F1020V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061425

SMART Domains

Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	326	6e-143	PFAM
low complexity region	330	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110294
AA Change: F1020V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: F1020V

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220974
AA Change: F1020V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	Het

Other mutations in Elmsan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Elmsan1	APN	12	84172855	nonsense	probably null
IGL00913:Elmsan1	APN	12	84172858	missense	probably benign
IGL00944:Elmsan1	APN	12	84160548	splice site	probably benign
IGL01108:Elmsan1	APN	12	84173691	missense	probably damaging	1.00
IGL01952:Elmsan1	APN	12	84173266	missense	probably benign	0.00
IGL01961:Elmsan1	APN	12	84173614	missense	probably damaging	1.00
IGL02188:Elmsan1	APN	12	84162326	missense	probably benign	0.00
IGL02700:Elmsan1	APN	12	84152862	missense	probably benign	0.06
R0645:Elmsan1	UTSW	12	84158303	missense	possibly damaging	0.71
R1387:Elmsan1	UTSW	12	84152931	missense	probably damaging	0.98
R1740:Elmsan1	UTSW	12	84172902	missense	probably damaging	0.99
R1769:Elmsan1	UTSW	12	84158350	splice site	probably benign
R1795:Elmsan1	UTSW	12	84158974	critical splice donor site	probably null
R2146:Elmsan1	UTSW	12	84173035	missense	probably damaging	0.99
R2872:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R2872:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R2940:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R3408:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R3689:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R3691:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R3840:Elmsan1	UTSW	12	84171609	missense	probably damaging	0.99
R4364:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R4366:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R4392:Elmsan1	UTSW	12	84173111	missense	probably benign	0.06
R4439:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R4440:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R4496:Elmsan1	UTSW	12	84156471	missense	probably benign	0.00
R5227:Elmsan1	UTSW	12	84152887	missense	probably benign	0.10
R6921:Elmsan1	UTSW	12	84156459	missense	probably damaging	0.99
R7675:Elmsan1	UTSW	12	84173800	missense	probably damaging	1.00
R8956:Elmsan1	UTSW	12	84162328	missense	probably benign
R8990:Elmsan1	UTSW	12	84171606	missense	probably benign
R9058:Elmsan1	UTSW	12	84173868	missense	probably damaging	0.98
R9106:Elmsan1	UTSW	12	84152553	missense	probably damaging	0.99
R9369:Elmsan1	UTSW	12	84172896	missense	probably benign
R9643:Elmsan1	UTSW	12	84173111	missense	probably benign	0.06
R9794:Elmsan1	UTSW	12	84173802	missense	probably damaging	0.98
Z1176:Elmsan1	UTSW	12	84173499	missense	probably damaging	0.99
Z1176:Elmsan1	UTSW	12	84173501	missense	probably damaging	0.98
Z1177:Elmsan1	UTSW	12	84152991	missense	probably benign	0.01
Z1177:Elmsan1	UTSW	12	84162358	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCATGACGCCATTACCCTG -3'
(R):5'- TTCTTCAGATGCCAGAACCTC -3'

Sequencing Primer
(F):5'- TGGAAACCCACTGAGCTGATC -3'
(R):5'- TGCCTCTAAGACACGCCCTG -3'

Posted On

2022-02-07