Mutagenetix > Incidental Mutation

Incidental Mutation 'R6136:Gm5624'

488370

Institutional Source

Beutler Lab

Gene Symbol

Gm5624

Ensembl Gene

ENSMUSG00000092165

Gene Name

predicted gene 5624

Synonyms

MMRRC Submission

044283-MU

Accession Numbers

Essential gene?

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

Stock #

R6136 (G1)

Quality Score

134.008

Status

Validated

Chromosome

Chromosomal Location

44794603-44865381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44797333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 152 (D152E)

Ref Sequence

ENSEMBL: ENSMUSP00000154449 (fasta)

Gene Model

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

AlphaFold

J3QK24

Predicted Effect

unknown
Transcript: ENSMUST00000165769
AA Change: D196E

SMART Domains

Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: D196E

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: D153E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: D153E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226445

Predicted Effect

probably benign
Transcript: ENSMUST00000227882
AA Change: D152E

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228629

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,181 (GRCm39)	G124C	unknown	Het
3425401B19Rik	A	T	14: 32,384,239 (GRCm39)	D575E	possibly damaging	Het
Abca15	A	T	7: 119,939,272 (GRCm39)	H222L	possibly damaging	Het
Arhgef18	T	C	8: 3,504,507 (GRCm39)	V1013A	probably benign	Het
Arsj	T	C	3: 126,158,424 (GRCm39)	M1T	probably null	Het
Atp10a	A	C	7: 58,478,088 (GRCm39)	Q1377P	probably benign	Het
Atrip	T	A	9: 108,900,804 (GRCm39)	E178D	probably damaging	Het
Cblif	G	A	19: 11,727,649 (GRCm39)	A158T	probably damaging	Het
Chadl	T	C	15: 81,577,755 (GRCm39)	N625D	probably benign	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Cox11	T	C	11: 90,535,221 (GRCm39)	L84P	probably damaging	Het
Dchs1	T	G	7: 105,410,132 (GRCm39)	T1747P	probably benign	Het
Dnah12	A	G	14: 26,597,227 (GRCm39)	K3529E	probably damaging	Het
Ecd	T	C	14: 20,370,859 (GRCm39)	N620S	probably damaging	Het
Fbn1	T	A	2: 125,245,052 (GRCm39)	K278N	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fzd7	T	G	1: 59,522,419 (GRCm39)	F101V	probably damaging	Het
Galnt13	G	T	2: 54,406,491 (GRCm39)		probably benign	Het
Gm32647	C	T	7: 94,124,939 (GRCm39)			Het
Heatr6	T	A	11: 83,663,329 (GRCm39)	V664E	possibly damaging	Het
Hpgd	A	G	8: 56,747,987 (GRCm39)	D36G	probably damaging	Het
Ifnlr1	A	G	4: 135,431,108 (GRCm39)	T199A	possibly damaging	Het
Kalrn	T	G	16: 34,177,481 (GRCm39)	D228A	probably damaging	Het
Miox	T	C	15: 89,219,524 (GRCm39)	M47T	probably damaging	Het
Nampt	A	T	12: 32,880,301 (GRCm39)	I65F	probably benign	Het
Ncf1	T	C	5: 134,255,487 (GRCm39)	K135E	probably damaging	Het
Nop53	G	A	7: 15,672,314 (GRCm39)	Q452*	probably null	Het
Or8u10	A	G	2: 85,915,245 (GRCm39)	L292S	probably damaging	Het
Pik3cg	A	G	12: 32,254,358 (GRCm39)	V543A	probably benign	Het
Ralgds	T	C	2: 28,440,577 (GRCm39)		probably null	Het
Rap1a	A	G	3: 105,657,598 (GRCm39)	V7A	probably damaging	Het
Rasal1	T	C	5: 120,813,543 (GRCm39)	V639A	possibly damaging	Het
Rassf8	A	G	6: 145,761,382 (GRCm39)	N236S	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sbno1	T	C	5: 124,516,554 (GRCm39)	D1272G	probably benign	Het
Setx	A	G	2: 29,038,039 (GRCm39)	D1508G	probably benign	Het
Slc1a1	T	A	19: 28,882,810 (GRCm39)	L358Q	probably damaging	Het
Slc7a12	C	A	3: 14,564,186 (GRCm39)	L20I	probably benign	Het
Spata31g1	T	C	4: 42,972,853 (GRCm39)	S729P	probably damaging	Het
Spats2l	C	T	1: 57,941,302 (GRCm39)	T187M	probably damaging	Het
Specc1l	A	G	10: 75,082,494 (GRCm39)	D647G	probably benign	Het
Steap4	G	A	5: 8,028,562 (GRCm39)	R380Q	probably damaging	Het
Syne2	A	G	12: 75,952,099 (GRCm39)	S456G	probably benign	Het
Tfcp2	G	T	15: 100,410,194 (GRCm39)	T391N	probably damaging	Het
Tns2	T	A	15: 102,015,465 (GRCm39)	D122E	probably damaging	Het
Tshr	A	G	12: 91,505,008 (GRCm39)	M649V	probably benign	Het
Ubr3	A	G	2: 69,824,107 (GRCm39)	T1440A	probably benign	Het
Urb2	A	G	8: 124,756,831 (GRCm39)	D846G	probably benign	Het
Vmn1r202	T	C	13: 22,685,632 (GRCm39)	T262A	possibly damaging	Het
Vmn2r61	G	T	7: 41,916,455 (GRCm39)	W356L	probably damaging	Het
Wdr11	T	A	7: 129,220,427 (GRCm39)	M605K	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Gm5624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Gm5624	APN	14	44,797,296 (GRCm39)	critical splice donor site	probably null
IGL02682:Gm5624	APN	14	44,797,469 (GRCm39)	missense	possibly damaging	0.86
IGL03145:Gm5624	APN	14	44,798,222 (GRCm39)	missense	possibly damaging	0.50
IGL03212:Gm5624	APN	14	44,798,167 (GRCm39)	missense	probably benign	0.01
R1800:Gm5624	UTSW	14	44,799,302 (GRCm39)	missense	probably damaging	1.00
R6727:Gm5624	UTSW	14	44,799,332 (GRCm39)	missense	possibly damaging	0.52
R7512:Gm5624	UTSW	14	44,799,312 (GRCm39)	missense
R7662:Gm5624	UTSW	14	44,799,390 (GRCm39)	missense	possibly damaging	0.94
R7950:Gm5624	UTSW	14	44,798,190 (GRCm39)	missense
R8411:Gm5624	UTSW	14	44,799,347 (GRCm39)	missense
R8413:Gm5624	UTSW	14	44,799,347 (GRCm39)	missense
R9355:Gm5624	UTSW	14	44,799,272 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAAAAGGCTACCTCCACAG -3'
(R):5'- GCAGGCAAATCAAAGCTAGC -3'

Sequencing Primer
(F):5'- TCCACAGAAACCCTTGTAGATG -3'
(R):5'- AGCTAGCTGGGGATCAACATTTATG -3'

Posted On

2017-10-10