Mutagenetix > Incidental Mutation

Incidental Mutation 'R6578:Gm7145'

523831

Institutional Source

Beutler Lab

Gene Symbol

Gm7145

Ensembl Gene

ENSMUSG00000100617

Gene Name

predicted gene 7145

Synonyms

MMRRC Submission

044702-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R6578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117893669-117914614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117913525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 136 (P136S)

Ref Sequence

ENSEMBL: ENSMUSP00000140916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000185381]

AlphaFold

A0A087WS64

Predicted Effect

probably damaging
Transcript: ENSMUST00000185381
AA Change: P136S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140916
Gene: ENSMUSG00000100617
AA Change: P136S

Domain	Start	End	E-Value	Type
KRAB	8	68	4.4e-36	SMART
ZnF_C2H2	109	131	3.6e-6	SMART
ZnF_C2H2	137	159	3.4e-5	SMART
ZnF_C2H2	165	187	1.7e-6	SMART
ZnF_C2H2	193	215	1e-7	SMART
ZnF_C2H2	221	243	2e-5	SMART
ZnF_C2H2	249	271	2.1e-7	SMART
ZnF_C2H2	277	299	9.3e-5	SMART
ZnF_C2H2	305	327	3.4e-4	SMART
ZnF_C2H2	333	355	3.2e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.8%
20x: 89.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	A	6: 146,854,812 (GRCm39)	R77*	probably null	Het
Aldh9a1	A	G	1: 167,183,328 (GRCm39)	Y182C	probably damaging	Het
Alpk3	T	A	7: 80,728,432 (GRCm39)	S521T	probably benign	Het
Ankzf1	A	G	1: 75,174,401 (GRCm39)	R464G	possibly damaging	Het
Baz2b	T	C	2: 59,799,623 (GRCm39)	E232G	possibly damaging	Het
Bbs2	T	C	8: 94,803,669 (GRCm39)	S524G	probably null	Het
Casp1	A	G	9: 5,304,280 (GRCm39)	K318R	probably benign	Het
Clock	T	A	5: 76,364,556 (GRCm39)	Q853L	unknown	Het
Clstn3	A	G	6: 124,427,663 (GRCm39)		probably null	Het
Ebpl	A	C	14: 61,597,769 (GRCm39)	V24G	probably benign	Het
Erbb2	T	C	11: 98,319,014 (GRCm39)	C568R	probably damaging	Het
Gcm2	A	G	13: 41,259,154 (GRCm39)	I105T	probably damaging	Het
Helb	G	T	10: 119,947,086 (GRCm39)	R76S	probably damaging	Het
Hipk4	T	C	7: 27,227,812 (GRCm39)	I186T	probably damaging	Het
Igdcc3	A	G	9: 65,089,301 (GRCm39)	D499G	probably damaging	Het
Krt26	T	A	11: 99,225,628 (GRCm39)	Q284H	probably damaging	Het
Lama4	T	C	10: 38,893,361 (GRCm39)	I156T	probably benign	Het
Mical2	T	A	7: 111,910,652 (GRCm39)	F274Y	probably damaging	Het
Mug1	A	T	6: 121,864,411 (GRCm39)	Q1436L	probably benign	Het
Nin	A	G	12: 70,107,968 (GRCm39)	V208A	probably damaging	Het
Or4p20	T	C	2: 88,253,488 (GRCm39)	S294G	probably benign	Het
Pappa	T	A	4: 65,074,374 (GRCm39)	N309K	possibly damaging	Het
Pdcd11	T	C	19: 47,099,520 (GRCm39)	V873A	probably benign	Het
Phf14	G	A	6: 11,991,996 (GRCm39)	C724Y	probably damaging	Het
Pik3r2	T	G	8: 71,225,283 (GRCm39)	I127L	probably benign	Het
Polr1a	T	A	6: 71,953,025 (GRCm39)	M1531K	possibly damaging	Het
Pwwp2b	T	C	7: 138,836,028 (GRCm39)	C490R	probably damaging	Het
Rax	T	C	18: 66,071,738 (GRCm39)	T50A	probably benign	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Sema4c	C	T	1: 36,589,834 (GRCm39)	V507I	probably benign	Het
Skint8	C	T	4: 111,794,159 (GRCm39)	T183I	probably benign	Het
Spata16	C	T	3: 26,721,697 (GRCm39)	Q73*	probably null	Het
Sync	T	C	4: 129,188,060 (GRCm39)	L364P	probably damaging	Het
Syne1	T	A	10: 5,355,454 (GRCm39)	K376*	probably null	Het
Tanc1	C	T	2: 59,626,298 (GRCm39)	R552C	probably damaging	Het
Tdrd6	T	C	17: 43,939,852 (GRCm39)	I399V	possibly damaging	Het
Vps13b	T	C	15: 35,446,247 (GRCm39)	C455R	probably damaging	Het

Other mutations in Gm7145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Gm7145	APN	1	117,895,417 (GRCm39)	missense	probably benign	0.00
R6133:Gm7145	UTSW	1	117,913,618 (GRCm39)	missense	probably damaging	1.00
R6244:Gm7145	UTSW	1	117,913,870 (GRCm39)	missense	probably damaging	1.00
R6381:Gm7145	UTSW	1	117,913,669 (GRCm39)	nonsense	probably null
R6853:Gm7145	UTSW	1	117,913,874 (GRCm39)	missense	possibly damaging	0.95
R6913:Gm7145	UTSW	1	117,913,711 (GRCm39)	missense	probably damaging	1.00
R7159:Gm7145	UTSW	1	117,913,561 (GRCm39)	missense	probably benign	0.01
R7196:Gm7145	UTSW	1	117,913,791 (GRCm39)	missense	possibly damaging	0.81
R7313:Gm7145	UTSW	1	117,913,932 (GRCm39)	missense	probably damaging	1.00
R7343:Gm7145	UTSW	1	117,913,842 (GRCm39)	missense	probably damaging	1.00
R7369:Gm7145	UTSW	1	117,913,838 (GRCm39)	missense	probably benign	0.01
R8034:Gm7145	UTSW	1	117,913,894 (GRCm39)	missense	probably benign	0.03
R9316:Gm7145	UTSW	1	117,896,174 (GRCm39)	missense	probably benign	0.01
R9726:Gm7145	UTSW	1	117,913,706 (GRCm39)	missense	possibly damaging	0.95
R9732:Gm7145	UTSW	1	117,913,839 (GRCm39)	missense	probably benign	0.03
Z1176:Gm7145	UTSW	1	117,914,081 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGATCAGGAAGCTCCAGATAC -3'
(R):5'- TTGTACCCAGTATGGATTCTCTG -3'

Sequencing Primer
(F):5'- GGAAGCTCCAGATACTCTTCCTGAG -3'
(R):5'- ACCCAGTATGGATTCTCTGGTGAAC -3'

Posted On

2018-06-22