Mutagenetix > Incidental Mutations

Incidental Mutation 'R8413:Gm5624'

652802

Institutional Source

Beutler Lab

Gene Symbol

Gm5624

Ensembl Gene

ENSMUSG00000092165

Gene Name

predicted gene 5624

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R8413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44556795-44627938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44561890 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 70 (N70T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]

Predicted Effect

SMART Domains

Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: N70T

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1.2e-27	PFAM
coiled coil region	152	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178184
AA Change: N27T

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: N27T

Domain	Start	End	E-Value	Type
Pfam:Takusan	13	93	2.2e-27	PFAM
coiled coil region	109	142	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000227882
AA Change: N26T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000228629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,423,900	D86E	probably benign	Het
Adamts5	A	G	16: 85,866,618		probably null	Het
Arhgap31	T	C	16: 38,602,921	R928G	possibly damaging	Het
Birc6	T	C	17: 74,546,393	V164A	possibly damaging	Het
Cdh26	T	A	2: 178,468,229	H438Q	probably damaging	Het
Cfap65	T	A	1: 74,917,169	K1084*	probably null	Het
Csmd1	T	C	8: 15,900,676	H3511R	probably damaging	Het
Ebf1	T	A	11: 44,643,447	S178T	possibly damaging	Het
Eln	A	G	5: 134,726,521	V226A	unknown	Het
Fat4	A	T	3: 39,008,979		probably null	Het
Gcn1l1	C	T	5: 115,579,639	T222I	probably benign	Het
Gm11639	A	C	11: 104,920,309	K3192N	unknown	Het
Gpc6	T	A	14: 117,892,349	V387E	possibly damaging	Het
Gyg	C	T	3: 20,125,455	V255M	probably damaging	Het
Henmt1	T	A	3: 108,957,649	F146I	probably damaging	Het
Itpr3	T	A	17: 27,111,926	L1736Q	probably damaging	Het
Kcnh4	A	G	11: 100,749,793	V469A	possibly damaging	Het
Mybpc2	A	G	7: 44,508,305	L750P	probably damaging	Het
Naalad2	A	G	9: 18,330,643	V655A	probably damaging	Het
Nme8	C	T	13: 19,674,519	D289N	probably benign	Het
Olfr1109	T	C	2: 87,093,158	K80E	probably benign	Het
Olfr1199	T	A	2: 88,756,680		probably benign	Het
Olfr358	T	G	2: 37,005,390	T75P	probably damaging	Het
Olfr720	A	G	14: 14,175,416	V222A	probably benign	Het
Olfr727	C	G	14: 50,127,370	S264R	probably benign	Het
Olfr948	T	A	9: 39,319,105	K170*	probably null	Het
Phf24	T	A	4: 42,937,906	C173*	probably null	Het
Plcb2	A	G	2: 118,718,823	F353L	probably damaging	Het
Prss33	C	A	17: 23,833,956	W248L	probably damaging	Het
Rgs3	T	G	4: 62,626,017	L350R	possibly damaging	Het
Samd11	C	T	4: 156,249,273	G200D	probably damaging	Het
Sh3tc2	G	C	18: 62,015,071	G1284A	probably benign	Het
Sh3tc2	T	A	18: 61,990,802	V878E	probably damaging	Het
Skint5	A	G	4: 113,715,703	S780P	unknown	Het
Slc8a3	T	C	12: 81,314,678	K456E	probably damaging	Het
Smok2a	T	A	17: 13,225,612	H25Q	probably benign	Het
Srrt	A	G	5: 137,300,327	L225P	possibly damaging	Het
Stox1	C	T	10: 62,664,975	R602Q	probably damaging	Het
Tmem30a	A	T	9: 79,776,225	C157S	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,278	S850P	probably damaging	Het
Trpm6	A	G	19: 18,832,485	I1082V	probably benign	Het
Ttll5	T	A	12: 85,919,121	N646K	probably benign	Het
Vmn1r179	A	T	7: 23,928,852	Y156F	probably benign	Het
Vmn1r54	T	A	6: 90,269,431	L109H	probably damaging	Het
Wdr17	T	C	8: 54,662,918	I617V	probably benign	Het
Zeb2	T	A	2: 44,996,171	Q958L	probably damaging	Het

Other mutations in Gm5624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Gm5624	APN	14	44559839	critical splice donor site	probably null
IGL02682:Gm5624	APN	14	44560012	missense	possibly damaging	0.86
IGL03145:Gm5624	APN	14	44560765	missense	possibly damaging	0.50
IGL03212:Gm5624	APN	14	44560710	missense	probably benign	0.01
R1800:Gm5624	UTSW	14	44561845	missense	probably damaging	1.00
R6136:Gm5624	UTSW	14	44559876	missense	probably benign	0.17
R6727:Gm5624	UTSW	14	44561875	missense	possibly damaging	0.52
R7512:Gm5624	UTSW	14	44561855	missense
R7662:Gm5624	UTSW	14	44561933	missense	possibly damaging	0.94
R7950:Gm5624	UTSW	14	44560733	missense
R8411:Gm5624	UTSW	14	44561890	missense

Predicted Primers

PCR Primer
(F):5'- TGAGAGATGACACACTCCATTC -3'
(R):5'- CCAGCTCAAATATAGCCTTTCTGC -3'

Sequencing Primer
(F):5'- CACTCCATTCATAGGAGAAAATGTGG -3'
(R):5'- AATATAGCCTTTCTGCTTTTTCAGTG -3'

Posted On

2020-10-20