Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Gm4884'

238490

Institutional Source

Beutler Lab

Gene Symbol

Gm4884

Ensembl Gene

ENSMUSG00000048312

Gene Name

predicted gene 4884

Synonyms

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2198 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

40682143-40694726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40690229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000133059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164422]

AlphaFold

E9PVP9

Predicted Effect

probably benign
Transcript: ENSMUST00000164422
AA Change: T42A

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

SMART Domains

Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: T42A

Domain	Start	End	E-Value	Type
Pfam:DUF4629	243	387	8e-62	PFAM
low complexity region	509	533	N/A	INTRINSIC
internal_repeat_1	554	584	1.89e-11	PROSPERO
internal_repeat_1	583	613	1.89e-11	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Gm4884

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Gm4884	APN	7	40,693,809 (GRCm39)	missense	probably benign	0.22
IGL00980:Gm4884	APN	7	40,693,150 (GRCm39)	missense	probably damaging	1.00
IGL02230:Gm4884	APN	7	40,692,829 (GRCm39)	missense	probably damaging	1.00
IGL03271:Gm4884	APN	7	40,692,699 (GRCm39)	missense	probably benign	0.33
IGL03274:Gm4884	APN	7	40,693,969 (GRCm39)	missense	probably damaging	1.00
R0013:Gm4884	UTSW	7	40,693,716 (GRCm39)	missense	probably damaging	1.00
R0139:Gm4884	UTSW	7	40,692,387 (GRCm39)	missense	probably benign	0.00
R0179:Gm4884	UTSW	7	40,693,252 (GRCm39)	missense	probably benign	0.26
R0960:Gm4884	UTSW	7	40,692,232 (GRCm39)	missense	possibly damaging	0.55
R1167:Gm4884	UTSW	7	40,693,336 (GRCm39)	missense	possibly damaging	0.92
R1311:Gm4884	UTSW	7	40,692,539 (GRCm39)	missense	possibly damaging	0.73
R1466:Gm4884	UTSW	7	40,692,552 (GRCm39)	missense	probably damaging	0.96
R1466:Gm4884	UTSW	7	40,692,552 (GRCm39)	missense	probably damaging	0.96
R1581:Gm4884	UTSW	7	40,693,255 (GRCm39)	missense	probably benign	0.09
R1622:Gm4884	UTSW	7	40,692,265 (GRCm39)	missense	probably damaging	0.99
R1891:Gm4884	UTSW	7	40,692,539 (GRCm39)	missense	possibly damaging	0.73
R1952:Gm4884	UTSW	7	40,693,671 (GRCm39)	missense	probably benign	0.02
R2209:Gm4884	UTSW	7	40,692,745 (GRCm39)	missense	possibly damaging	0.47
R2210:Gm4884	UTSW	7	40,692,970 (GRCm39)	missense	possibly damaging	0.72
R2219:Gm4884	UTSW	7	40,692,910 (GRCm39)	missense	possibly damaging	0.75
R3688:Gm4884	UTSW	7	40,692,910 (GRCm39)	missense	possibly damaging	0.75
R4437:Gm4884	UTSW	7	40,692,514 (GRCm39)	missense	probably damaging	0.97
R4472:Gm4884	UTSW	7	40,692,687 (GRCm39)	missense	probably benign	0.35
R5137:Gm4884	UTSW	7	40,692,318 (GRCm39)	missense	probably damaging	0.99
R5700:Gm4884	UTSW	7	40,692,643 (GRCm39)	missense	probably benign	0.22
R5875:Gm4884	UTSW	7	40,692,360 (GRCm39)	missense	possibly damaging	0.75
R6479:Gm4884	UTSW	7	40,690,211 (GRCm39)	missense	probably damaging	0.99
R6659:Gm4884	UTSW	7	40,694,046 (GRCm39)	missense	probably damaging	1.00
R7180:Gm4884	UTSW	7	40,693,633 (GRCm39)	missense	possibly damaging	0.89
R7844:Gm4884	UTSW	7	40,690,122 (GRCm39)	missense	probably benign	0.11
R8153:Gm4884	UTSW	7	40,692,582 (GRCm39)	missense	probably benign	0.17
R8436:Gm4884	UTSW	7	40,692,810 (GRCm39)	missense	probably damaging	0.97
R8880:Gm4884	UTSW	7	40,693,911 (GRCm39)	missense	probably damaging	1.00
R8885:Gm4884	UTSW	7	40,694,108 (GRCm39)	nonsense	probably null
R9406:Gm4884	UTSW	7	40,692,565 (GRCm39)	missense	probably damaging	1.00
R9621:Gm4884	UTSW	7	40,693,111 (GRCm39)	missense	possibly damaging	0.76
R9728:Gm4884	UTSW	7	40,692,689 (GRCm39)	missense	probably benign	0.00
RF013:Gm4884	UTSW	7	40,690,233 (GRCm39)	missense	probably damaging	1.00
Z1088:Gm4884	UTSW	7	40,692,300 (GRCm39)	missense	possibly damaging	0.71
Z1177:Gm4884	UTSW	7	40,682,161 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCACAGCTAGTACACACTGG -3'
(R):5'- TTCCAGTACAATCCCACCTGAG -3'

Sequencing Primer
(F):5'- GCTAGTACACACTGGATATAGCACTG -3'
(R):5'- CACCTGAGAGCACCTGGATAG -3'

Posted On

2014-10-02