Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Gm38394'

429910

Institutional Source

Beutler Lab

Gene Symbol

Gm38394

Ensembl Gene

ENSMUSG00000094410

Gene Name

predicted gene, 38394

Synonyms

MMRRC Submission

042971-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133619940-133661318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133658141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 486 (T486I)

Ref Sequence

ENSEMBL: ENSMUSP00000140892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000193504] [ENSMUST00000194668] [ENSMUST00000195067] [ENSMUST00000195424]

AlphaFold

D2EAC2

Predicted Effect

probably benign
Transcript: ENSMUST00000027736

SMART Domains

Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179598
AA Change: T486I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: T486I

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	9.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186476
AA Change: T486I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: T486I

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190574
AA Change: T486I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: T486I

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191705

Predicted Effect

probably benign
Transcript: ENSMUST00000191896

SMART Domains

Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192775

Predicted Effect

probably benign
Transcript: ENSMUST00000193504

SMART Domains

Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
Blast:ZnF_C3H1	60	84	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194668

SMART Domains

Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195067

Predicted Effect

probably benign
Transcript: ENSMUST00000195424

SMART Domains

Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART
low complexity region	161	176	N/A	INTRINSIC

Meta Mutation Damage Score

0.3453

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	Het

Other mutations in Gm38394

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0385:Gm38394	UTSW	1	133656784	missense	probably damaging	0.99
R0417:Gm38394	UTSW	1	133658538	missense	probably benign
R0526:Gm38394	UTSW	1	133658734	missense	probably damaging	0.99
R0576:Gm38394	UTSW	1	133657838	missense	probably benign	0.37
R1164:Gm38394	UTSW	1	133659203	missense	probably damaging	1.00
R1187:Gm38394	UTSW	1	133659203	missense	probably damaging	1.00
R1415:Gm38394	UTSW	1	133657818	missense	possibly damaging	0.80
R1997:Gm38394	UTSW	1	133656713	missense	probably damaging	1.00
R2186:Gm38394	UTSW	1	133658079	missense	probably damaging	1.00
R2875:Gm38394	UTSW	1	133656860	missense	probably damaging	1.00
R2876:Gm38394	UTSW	1	133656860	missense	probably damaging	1.00
R2975:Gm38394	UTSW	1	133658237	missense	probably damaging	0.99
R4573:Gm38394	UTSW	1	133659389	missense	probably benign	0.00
R4631:Gm38394	UTSW	1	133658744	missense	probably damaging	1.00
R4671:Gm38394	UTSW	1	133657040	missense	probably benign
R4976:Gm38394	UTSW	1	133658094	missense	probably benign	0.27
R5048:Gm38394	UTSW	1	133658724	missense	probably damaging	0.99
R5318:Gm38394	UTSW	1	133658115	missense	possibly damaging	0.86
R5427:Gm38394	UTSW	1	133657595	missense	possibly damaging	0.83
R6530:Gm38394	UTSW	1	133659201	missense	probably damaging	1.00
R7511:Gm38394	UTSW	1	133659243	missense	probably benign	0.30
R8215:Gm38394	UTSW	1	133658792	missense	probably damaging	1.00
R8529:Gm38394	UTSW	1	133656968	missense	probably benign	0.00
R8685:Gm38394	UTSW	1	133657016	nonsense	probably null
R9414:Gm38394	UTSW	1	133657277	missense	probably damaging	1.00
R9429:Gm38394	UTSW	1	133657715	missense	probably damaging	0.99
Z1177:Gm38394	UTSW	1	133659116	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCTGAGTCTCTGCAGGGAA -3'
(R):5'- TACAACTATTTCTCAACCCCAGC -3'

Sequencing Primer
(F):5'- GGGTAAAGCCACCACCTTTGATTG -3'
(R):5'- CCTTTCAAAGGTTTCTACAGATTGTC -3'

Posted On

2016-09-06