Mutagenetix > Incidental Mutation

Incidental Mutation 'R4239:Gm1979'

321246

Institutional Source

Beutler Lab

Gene Symbol

Gm1979

Ensembl Gene

ENSMUSG00000091049

Gene Name

predicted gene 1979

Synonyms

MMRRC Submission

041056-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4239 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

26204020-26209796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26206119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 154 (T154A)

Ref Sequence

ENSEMBL: ENSMUSP00000130782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168875] [ENSMUST00000170224]

AlphaFold

E9QAN3

Predicted Effect

probably benign
Transcript: ENSMUST00000168875
AA Change: T200A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130718
Gene: ENSMUSG00000091049
AA Change: T200A

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1e-25	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170224
AA Change: T154A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130782
Gene: ENSMUSG00000091049
AA Change: T154A

Domain	Start	End	E-Value	Type
Pfam:Takusan	3	89	1.1e-17	PFAM
low complexity region	108	122	N/A	INTRINSIC
low complexity region	189	213	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Alpk2	T	A	18: 65,433,212 (GRCm39)	I1765F	probably damaging	Het
Ano5	T	A	7: 51,237,414 (GRCm39)	I696N	probably damaging	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Atad2b	A	G	12: 5,035,710 (GRCm39)	N759D	probably benign	Het
B4galnt4	T	C	7: 140,641,239 (GRCm39)	L18P	probably damaging	Het
Boc	T	C	16: 44,312,247 (GRCm39)	D605G	probably damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cog4	T	C	8: 111,585,244 (GRCm39)	I303T	probably damaging	Het
Col18a1	C	T	10: 76,932,001 (GRCm39)	V363I	unknown	Het
Crip3	A	T	17: 46,742,156 (GRCm39)	K184*	probably null	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dnah3	G	A	7: 119,628,248 (GRCm39)	Q1459*	probably null	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Ehhadh	T	G	16: 21,581,438 (GRCm39)	D518A	probably damaging	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fbxl3	G	A	14: 103,326,854 (GRCm39)	S176L	probably damaging	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ifi214	A	T	1: 173,352,509 (GRCm39)	S307T	possibly damaging	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Large2	A	G	2: 92,196,950 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,191,224 (GRCm39)	I1086T	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Or13a25	A	G	7: 140,247,496 (GRCm39)	N99D	probably benign	Het
Or51f1d	T	C	7: 102,701,003 (GRCm39)	V166A	probably benign	Het
Or5g25	T	A	2: 85,478,647 (GRCm39)	Q6L	probably damaging	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Plcb1	A	T	2: 135,186,078 (GRCm39)	I682F	probably damaging	Het
Plcz1	T	A	6: 139,986,344 (GRCm39)		probably null	Het
Prl7a1	T	A	13: 27,821,549 (GRCm39)	Q129L	possibly damaging	Het
Prrt4	T	C	6: 29,170,163 (GRCm39)	Y763C	probably damaging	Het
Psma7	T	C	2: 179,681,304 (GRCm39)		probably benign	Het
Serpinb6b	G	C	13: 33,156,246 (GRCm39)	C112S	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Slc35f5	G	A	1: 125,500,211 (GRCm39)	A242T	possibly damaging	Het
Speer4b	T	C	5: 27,706,311 (GRCm39)	R19G	probably benign	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trbv12-2	A	G	6: 41,095,831 (GRCm39)	N12D	probably benign	Het
Uba7	T	C	9: 107,854,001 (GRCm39)		probably null	Het
Upf3a	A	G	8: 13,846,591 (GRCm39)	R324G	probably benign	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Wbp2	G	A	11: 115,971,373 (GRCm39)		probably benign	Het
Wdpcp	T	A	11: 21,645,269 (GRCm39)	N232K	probably damaging	Het
Wdpcp	T	A	11: 21,645,271 (GRCm39)	M233K	probably benign	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	probably damaging	Het

Other mutations in Gm1979

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03331:Gm1979	APN	5	26,207,008 (GRCm39)	missense	probably damaging	0.99
R1826:Gm1979	UTSW	5	26,206,240 (GRCm39)	missense	probably damaging	0.99
R4016:Gm1979	UTSW	5	26,209,604 (GRCm39)	nonsense	probably null
R4240:Gm1979	UTSW	5	26,206,119 (GRCm39)	missense	probably benign	0.05
R6135:Gm1979	UTSW	5	26,205,298 (GRCm39)	missense	probably damaging	0.99
R6608:Gm1979	UTSW	5	26,206,094 (GRCm39)	missense	probably benign	0.00
R6936:Gm1979	UTSW	5	26,207,028 (GRCm39)	missense	probably benign	0.26
R7149:Gm1979	UTSW	5	26,206,945 (GRCm39)	missense	probably benign	0.06
R7699:Gm1979	UTSW	5	26,205,178 (GRCm39)	missense	probably damaging	0.98
R7700:Gm1979	UTSW	5	26,205,178 (GRCm39)	missense	probably damaging	0.98
R8298:Gm1979	UTSW	5	26,206,148 (GRCm39)	missense	probably damaging	0.97
R9055:Gm1979	UTSW	5	26,207,032 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATTCAGTGTCTCACAAGAGGC -3'
(R):5'- CTTACCATGCAGAGTGTGTTTC -3'

Sequencing Primer
(F):5'- CAGTGTCTCACAAGAGGCTAATTTCC -3'
(R):5'- CCATGCAGAGTGTGTTTCCAGTAAC -3'

Posted On

2015-06-12