Mutagenetix > Incidental Mutations

Incidental Mutation 'R5706:Gm4778'

451961

Institutional Source

Beutler Lab

Gene Symbol

Gm4778

Ensembl Gene

ENSMUSG00000089696

Gene Name

predicted gene 4778

Synonyms

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94264036-94266784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94266652 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 322 (H322Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098878] [ENSMUST00000159517]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098878
AA Change: H322Q

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: H322Q

Domain	Start	End	E-Value	Type
MATH	25	134	6.01e-8	SMART
BTB	192	291	7.66e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159517
AA Change: H318Q

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: H318Q

Domain	Start	End	E-Value	Type
MATH	21	130	6.01e-8	SMART
BTB	188	287	7.66e-26	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	Het

Other mutations in Gm4778

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Gm4778	APN	3	94266484	missense	probably benign	0.00
IGL02032:Gm4778	APN	3	94266333	missense	probably damaging	1.00
IGL02694:Gm4778	APN	3	94266152	missense	probably benign
IGL03171:Gm4778	APN	3	94266455	missense	probably benign	0.00
R0195:Gm4778	UTSW	3	94265922	missense	possibly damaging	0.79
R0739:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1064:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1149:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1149:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1150:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1152:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1284:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1286:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1287:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1349:Gm4778	UTSW	3	94266128	missense	possibly damaging	0.94
R1358:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1372:Gm4778	UTSW	3	94266128	missense	possibly damaging	0.94
R1383:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1399:Gm4778	UTSW	3	94265795	missense	probably benign	0.17
R1756:Gm4778	UTSW	3	94266218	missense	probably benign
R1996:Gm4778	UTSW	3	94265711	missense	probably benign	0.00
R2679:Gm4778	UTSW	3	94265910	missense	probably damaging	1.00
R2878:Gm4778	UTSW	3	94266480	missense	possibly damaging	0.69
R5108:Gm4778	UTSW	3	94265835	missense	probably damaging	1.00
R6251:Gm4778	UTSW	3	94265901	missense	probably damaging	1.00
R6928:Gm4778	UTSW	3	94266548	missense	probably benign	0.31
R7091:Gm4778	UTSW	3	94266638	missense	probably damaging	1.00
R7264:Gm4778	UTSW	3	94265738	missense	possibly damaging	0.86
R7503:Gm4778	UTSW	3	94266473	missense	probably benign	0.29
R7595:Gm4778	UTSW	3	94266678	missense	probably benign	0.00
R7867:Gm4778	UTSW	3	94265847	missense	probably benign	0.25
R8338:Gm4778	UTSW	3	94265978	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GATGGGCTTCATTTACACTGGG -3'
(R):5'- GTTGGAAGACAGATGTTGGTCATAG -3'

Sequencing Primer
(F):5'- GCTTCATTTACACTGGGAAGGCAC -3'
(R):5'- CAGATGTTGGTCATAGATTTCCATCC -3'

Posted On

2017-01-03