Mutagenetix > Incidental Mutation

Incidental Mutation 'R7675:Elmsan1'

592431

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

Is this an essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

R7675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84149176-84218881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84173800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 127 (P127T)

Ref Sequence

ENSEMBL: ENSMUSP00000048120 (fasta)

Gene Model

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

AlphaFold

E9Q2I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046266
AA Change: P127T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: P127T

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 damaging
Transcript: ENSMUST00000110294
AA Change: P127T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: P127T

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 damaging
Transcript: ENSMUST00000220974
AA Change: P127T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (28/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	T	C	5: 93,213,374	S96P	unknown	Het
5730559C18Rik	G	T	1: 136,216,003	A565E	probably benign	Het
Acaca	A	G	11: 84,315,916	E1534G	probably benign	Het
Adam7	A	T	14: 68,499,853	D773E	probably benign	Het
C130026I21Rik	C	T	1: 85,247,015	M266I	probably benign	Het
Cacna1s	T	A	1: 136,110,874	I1398N	probably damaging	Het
Calu	C	T	6: 29,356,517	T14I	probably benign	Het
Casp8	A	G	1: 58,823,947	D2G	possibly damaging	Het
Cldn1	T	C	16: 26,371,511	N39S	probably benign	Het
Clspn	T	C	4: 126,566,320	S447P	probably benign	Het
Eef2k	A	G	7: 120,858,504	T29A	probably benign	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gm9844	A	T	7: 24,862,359	T28S	probably benign	Het
Gucy2c	A	G	6: 136,716,032	V723A	possibly damaging	Het
Ighv1-69	A	T	12: 115,623,589	W3R	probably damaging	Het
Krtap16-1	A	G	11: 99,985,433	C382R	possibly damaging	Het
Lrrc8a	G	A	2: 30,255,668	D165N	probably damaging	Het
Naaladl2	T	A	3: 24,551,652	M148L	probably benign	Het
Nphp3	A	T	9: 104,016,088	E424D	probably benign	Het
Prpf40a	T	C	2: 53,145,636	K714R	possibly damaging	Het
Ptpn23	A	T	9: 110,387,026	L1254*	probably null	Het
Sap30l	A	G	11: 57,810,041	K174E	probably damaging	Het
Serpinb9d	C	T	13: 33,202,776	Q276*	probably null	Het
Tex14	A	G	11: 87,509,678	D432G	probably damaging	Het
Unc119	G	A	11: 78,343,597	G11R	probably damaging	Het
Usp36	A	G	11: 118,263,696	V965A	probably benign	Het
Vmn2r4	A	T	3: 64,415,236	Y21N	probably benign	Het
Zbtb38	G	T	9: 96,685,541	D1163E	probably benign	Het
Zfp62	A	G	11: 49,216,020	I313V	possibly damaging	Het
Zfp980	C	T	4: 145,701,594	Q298*	probably null	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
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
R9205:Elmsan1	UTSW	12	84152887	missense	probably benign	0.00
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'- TTCTTGGCTGCATGGAAAGAG -3'
(R):5'- CTCTCCTGAACAGTGTGGTG -3'

Sequencing Primer
(F):5'- ACCTTCTGTGGCACCATGG -3'
(R):5'- TGTATGGATCTGAGAGGACCAC -3'

Posted On

2019-11-12