Mutagenetix > Incidental Mutation

Incidental Mutation 'R8545:Gm49368'

659585

Institutional Source

Beutler Lab

Gene Symbol

Gm49368

Ensembl Gene

ENSMUSG00000108596

Gene Name

predicted gene, 49368

Synonyms

MMRRC Submission

068510-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R8545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127661855-127727332 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127679433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 192 (Y192H)

Ref Sequence

ENSEMBL: ENSMUSP00000113957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: Y192H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Int_alpha	30	80	8.11e0	SMART
VWA	148	333	2.63e-49	SMART
Int_alpha	400	449	1.07e1	SMART
Int_alpha	453	510	1.48e-7	SMART
Int_alpha	516	572	4.9e-13	SMART
Int_alpha	579	633	3.67e-3	SMART
low complexity region	849	855	N/A	INTRINSIC
Pfam:Integrin_alpha	1130	1144	2.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098015
AA Change: Y192H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: Y192H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Int_alpha	30	80	8.11e0	SMART
VWA	148	333	2.63e-49	SMART
Int_alpha	400	449	1.07e1	SMART
Int_alpha	453	510	1.48e-7	SMART
Int_alpha	516	572	4.9e-13	SMART
Int_alpha	579	633	3.67e-3	SMART
low complexity region	849	855	N/A	INTRINSIC
coiled coil region	1143	1170	N/A	INTRINSIC
low complexity region	1178	1200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106240
AA Change: Y192H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: Y192H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Int_alpha	30	80	8.11e0	SMART
VWA	148	333	2.63e-49	SMART
Int_alpha	400	449	1.07e1	SMART
Int_alpha	462	516	3.67e-3	SMART
low complexity region	732	738	N/A	INTRINSIC
Pfam:Integrin_alpha	1013	1027	3.9e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: Y192H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Int_alpha	30	80	8.11e0	SMART
VWA	148	333	2.63e-49	SMART
Int_alpha	400	449	1.07e1	SMART
Int_alpha	453	511	5.91e-7	SMART
Int_alpha	517	573	4.9e-13	SMART
Int_alpha	580	634	3.67e-3	SMART
low complexity region	850	856	N/A	INTRINSIC
Pfam:Integrin_alpha	1131	1145	8.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120355
AA Change: Y192H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: Y192H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Int_alpha	30	80	8.11e0	SMART
VWA	148	333	2.63e-49	SMART
Int_alpha	400	449	1.07e1	SMART
Int_alpha	453	511	5.91e-7	SMART
Int_alpha	517	573	4.9e-13	SMART
Int_alpha	580	634	3.67e-3	SMART
low complexity region	850	856	N/A	INTRINSIC
low complexity region	1141	1150	N/A	INTRINSIC

Meta Mutation Damage Score

0.6565

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,236,794 (GRCm39)	Y1779C	probably damaging	Het
Apc	A	G	18: 34,450,084 (GRCm39)	N2293D	possibly damaging	Het
Arhgap30	T	C	1: 171,234,998 (GRCm39)	L488P	probably damaging	Het
Arhgap31	T	A	16: 38,423,408 (GRCm39)	Q886L	probably damaging	Het
Arhgef10	T	G	8: 14,978,868 (GRCm39)	V45G	probably benign	Het
Arhgef10	A	G	8: 15,025,931 (GRCm39)	T812A	possibly damaging	Het
Bbs2	T	C	8: 94,813,352 (GRCm39)	S246G	probably benign	Het
Cby3	T	C	11: 50,250,243 (GRCm39)	S150P	probably benign	Het
Cdc40	A	G	10: 40,723,939 (GRCm39)	V283A	probably benign	Het
Cox15	A	T	19: 43,728,421 (GRCm39)	V284E	probably damaging	Het
Cyp4a12b	A	T	4: 115,290,227 (GRCm39)	H260L	probably benign	Het
Dph6	G	A	2: 114,478,248 (GRCm39)	A31V	probably damaging	Het
Dsc2	G	A	18: 20,167,722 (GRCm39)	Q123*	probably null	Het
Eftud2	A	G	11: 102,731,097 (GRCm39)	F810S	probably damaging	Het
Erich3	A	T	3: 154,467,996 (GRCm39)		probably benign	Het
Herc1	T	A	9: 66,279,257 (GRCm39)	L55*	probably null	Het
Hgsnat	T	C	8: 26,445,707 (GRCm39)	T396A	probably benign	Het
Il17rd	T	G	14: 26,813,886 (GRCm39)	F55C	probably damaging	Het
Mad1l1	A	C	5: 140,286,249 (GRCm39)	M250R	probably benign	Het
Muc15	A	T	2: 110,561,581 (GRCm39)	K6*	probably null	Het
Muc2	A	G	7: 141,306,130 (GRCm39)	N273S	unknown	Het
Myh1	T	A	11: 67,093,027 (GRCm39)	Y78N	probably benign	Het
Pcdh20	T	A	14: 88,706,601 (GRCm39)	H233L	probably damaging	Het
Pcnx4	G	A	12: 72,602,856 (GRCm39)	A373T	probably benign	Het
Phf3	A	T	1: 30,863,391 (GRCm39)	M778K	possibly damaging	Het
Pigg	A	T	5: 108,489,726 (GRCm39)	D644V	probably damaging	Het
Rnf148	A	T	6: 23,654,570 (GRCm39)	I142N	probably damaging	Het
Ryr1	T	C	7: 28,704,239 (GRCm39)		probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tapbp	A	G	17: 34,139,291 (GRCm39)	M87V	possibly damaging	Het
Tbccd1	T	C	16: 22,652,779 (GRCm39)	Y114C	probably benign	Het
Tet1	A	T	10: 62,648,718 (GRCm39)	W1905R	probably damaging	Het
Tmem109	G	A	19: 10,851,734 (GRCm39)	R37*	probably null	Het
Wdfy4	T	C	14: 32,800,258 (GRCm39)	Y1802C	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zcchc4	G	A	5: 52,976,741 (GRCm39)		probably benign	Het
Zfp646	T	C	7: 127,484,662 (GRCm39)	S1772P	probably benign	Het
Zfp820	A	G	17: 22,038,438 (GRCm39)	C297R	probably damaging	Het

Other mutations in Gm49368

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6890:Gm49368	UTSW	7	127,680,901 (GRCm39)	missense	probably benign	0.24
R7085:Gm49368	UTSW	7	127,726,029 (GRCm39)	missense	unknown
R7475:Gm49368	UTSW	7	127,707,154 (GRCm39)	missense	possibly damaging	0.60
R7578:Gm49368	UTSW	7	127,711,430 (GRCm39)	nonsense	probably null
R7685:Gm49368	UTSW	7	127,712,414 (GRCm39)	missense	probably damaging	1.00
R7757:Gm49368	UTSW	7	127,711,398 (GRCm39)	missense	probably damaging	1.00
R7994:Gm49368	UTSW	7	127,684,818 (GRCm39)	missense	possibly damaging	0.50
R8081:Gm49368	UTSW	7	127,726,280 (GRCm39)	missense	unknown
R8145:Gm49368	UTSW	7	127,712,487 (GRCm39)	missense	probably null	0.84
R8368:Gm49368	UTSW	7	127,713,921 (GRCm39)	missense	probably benign
R8485:Gm49368	UTSW	7	127,711,611 (GRCm39)	missense	probably damaging	1.00
R8542:Gm49368	UTSW	7	127,679,433 (GRCm39)	missense	probably damaging	1.00
R8543:Gm49368	UTSW	7	127,679,433 (GRCm39)	missense	probably damaging	1.00
R8870:Gm49368	UTSW	7	127,700,685 (GRCm39)	missense	probably benign
R9347:Gm49368	UTSW	7	127,712,178 (GRCm39)	missense	possibly damaging	0.51
Z1177:Gm49368	UTSW	7	127,712,239 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACATGTTCTTTTCAACTGTGCTTG -3'
(R):5'- ACGTCCTTCTGTGAAAGGCG -3'

Sequencing Primer
(F):5'- GCAGCCCTGACTGATTGAATG -3'
(R):5'- TCCTTCTGTGAAAGGCGAAGAC -3'

Posted On

2021-01-18