Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Gm996'

557778

Institutional Source

Beutler Lab

Gene Symbol

Gm996

Ensembl Gene

ENSMUSG00000029419

Gene Name

predicted gene 996

Synonyms

LOC381353

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25575416-25581757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25578567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 444 (H444L)

Ref Sequence

ENSEMBL: ENSMUSP00000109855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000188161] [ENSMUST00000191602]

AlphaFold

A2AJA9

Predicted Effect

probably benign
Transcript: ENSMUST00000039156

SMART Domains

Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

Domain	Start	End	E-Value	Type
Pfam:Ocnus	5	116	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058137

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114217
AA Change: H444L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: H444L

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188161
AA Change: H444L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: H444L

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191602
AA Change: H444L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: H444L

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	Het

Other mutations in Gm996

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Gm996	APN	2	25579407	missense	probably damaging	0.97
IGL01370:Gm996	APN	2	25578957	missense	possibly damaging	0.82
IGL01973:Gm996	APN	2	25579572	nonsense	probably null
IGL01987:Gm996	APN	2	25577958	missense	possibly damaging	0.82
IGL02534:Gm996	APN	2	25577031	nonsense	probably null
R0457:Gm996	UTSW	2	25578346	missense	possibly damaging	0.66
R0799:Gm996	UTSW	2	25578562	missense	possibly damaging	0.83
R0931:Gm996	UTSW	2	25578489	missense	possibly damaging	0.82
R1243:Gm996	UTSW	2	25578558	missense	possibly damaging	0.66
R1477:Gm996	UTSW	2	25579753	missense	possibly damaging	0.66
R1559:Gm996	UTSW	2	25577031	nonsense	probably null
R1661:Gm996	UTSW	2	25579155	missense	possibly damaging	0.90
R1796:Gm996	UTSW	2	25577988	missense	probably damaging	1.00
R3955:Gm996	UTSW	2	25577571	nonsense	probably null
R4005:Gm996	UTSW	2	25578856	missense	probably benign	0.01
R4342:Gm996	UTSW	2	25579108	missense	possibly damaging	0.92
R4579:Gm996	UTSW	2	25579649	missense	possibly damaging	0.66
R4621:Gm996	UTSW	2	25578400	missense	probably damaging	0.96
R4770:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R4834:Gm996	UTSW	2	25579518	missense	possibly damaging	0.82
R4860:Gm996	UTSW	2	25578753	missense	probably damaging	0.99
R4860:Gm996	UTSW	2	25578753	missense	probably damaging	0.99
R4887:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R4888:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R5472:Gm996	UTSW	2	25579702	missense	probably benign
R5632:Gm996	UTSW	2	25579264	missense	probably benign
R6816:Gm996	UTSW	2	25579721	frame shift	probably null
R6818:Gm996	UTSW	2	25579721	frame shift	probably null
R6861:Gm996	UTSW	2	25579721	frame shift	probably null
R7543:Gm996	UTSW	2	25577398	missense	possibly damaging	0.81
R7748:Gm996	UTSW	2	25578959	missense	possibly damaging	0.46
R7783:Gm996	UTSW	2	25577808	missense	probably damaging	0.97
R7826:Gm996	UTSW	2	25578465	missense	possibly damaging	0.66
R8117:Gm996	UTSW	2	25579234	missense	probably benign	0.27
R8694:Gm996	UTSW	2	25579819	missense	possibly damaging	0.83
R8708:Gm996	UTSW	2	25577802	missense	possibly damaging	0.66
R8830:Gm996	UTSW	2	25577250	missense
R8904:Gm996	UTSW	2	25577902	missense	probably benign	0.27
R8928:Gm996	UTSW	2	25578565	missense	possibly damaging	0.92
R9253:Gm996	UTSW	2	25577160	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TAATCTCTGGCGTGACGTACC -3'
(R):5'- ATGTACTGGCTCGGACTTACC -3'

Sequencing Primer
(F):5'- CTGGCGTGACGTACCAGTTG -3'
(R):5'- GGACTTACCCGCACCCG -3'

Posted On

2019-06-26