Mutagenetix > Incidental Mutation

Incidental Mutation 'R7237:Fam126b'

562861

Institutional Source

Beutler Lab

Gene Symbol

Fam126b

Ensembl Gene

ENSMUSG00000038174

Gene Name

family with sequence similarity 126, member B

Synonyms

D1Ertd53e

MMRRC Submission

045344-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R7237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58522806-58586323 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 58529948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 491 (Q491*)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

probably null
Transcript: ENSMUST00000038372
AA Change: Q435*

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: Q435*

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097724
AA Change: Q491*

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: Q491*

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	3.3e-126	PFAM
low complexity region	374	399	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161600
AA Change: Q435*

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: Q435*

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187717

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,849,972	C1536*	probably null	Het
Armc9	C	A	1: 86,164,849	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,477,929	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,159,166	I360T	probably benign	Het
BB014433	C	A	8: 15,041,765	V363L	probably benign	Het
Bcam	T	C	7: 19,769,307		probably null	Het
Cacna1g	T	C	11: 94,437,879	S1071G	probably benign	Het
Card9	A	T	2: 26,356,775	S354T	probably benign	Het
Ccdc87	A	G	19: 4,839,762	N94S	probably benign	Het
Cdc27	A	G	11: 104,517,419	V555A	probably benign	Het
Coro1a	T	A	7: 126,700,306	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 71,118,209		probably benign	Het
Cyth1	A	T	11: 118,185,495	I95N	probably damaging	Het
Ddx58	T	A	4: 40,205,938	I885F	probably benign	Het
Dnah7b	A	T	1: 46,139,966	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966	I3968N	probably benign	Het
Fam184a	T	C	10: 53,634,393		probably benign	Het
Fat3	G	A	9: 16,377,214	L338F	probably damaging	Het
Fcgr3	A	G	1: 171,059,301	L18P	probably damaging	Het
Gbp5	T	C	3: 142,507,700	V459A	probably benign	Het
Gja4	A	T	4: 127,312,163	M269K	probably benign	Het
Gm4787	A	G	12: 81,377,668	V572A	probably damaging	Het
Grin2d	G	T	7: 45,866,176	S131*	probably null	Het
Gys1	A	G	7: 45,455,162	D671G	probably benign	Het
Haspin	T	C	11: 73,136,886	N459S	probably benign	Het
Hdac10	G	T	15: 89,125,377	Q451K	probably benign	Het
Hdac9	T	C	12: 34,374,140		probably null	Het
Hmcn1	A	G	1: 150,722,643	V1636A	probably damaging	Het
Hpca	A	G	4: 129,118,614	L43P	probably damaging	Het
Insm1	C	A	2: 146,222,528	A88E	possibly damaging	Het
Itga9	A	G	9: 118,636,602	K175E	probably benign	Het
Kif13a	A	G	13: 46,809,156		probably null	Het
Kif20b	T	A	19: 34,950,605	L1089H	probably damaging	Het
Lamp5	A	T	2: 136,059,835	H152L	probably benign	Het
Lrp4	T	C	2: 91,473,183	F76L	probably benign	Het
Magi3	T	C	3: 104,027,911	D902G	probably damaging	Het
Map10	C	T	8: 125,671,224	P452L	probably benign	Het
Mapk6	A	G	9: 75,397,613	L174P	probably damaging	Het
Ndufa4	C	T	6: 11,906,019		probably null	Het
Nedd4	A	T	9: 72,725,064	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,715,216	V449I	probably benign	Het
Nufip2	T	A	11: 77,692,770	N503K	probably benign	Het
Olfr220	C	T	1: 174,449,339	R239C	probably benign	Het
Olfr455	T	C	6: 42,538,647	D125G	probably damaging	Het
P4ha1	A	G	10: 59,348,243	T176A	probably benign	Het
Palm3	A	G	8: 84,029,488	K543R	probably benign	Het
Parvg	G	A	15: 84,341,356	A302T	probably benign	Het
Pcdh15	A	G	10: 74,584,191	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,345,139	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,125,297		probably null	Het
Pld5	T	C	1: 176,274,735	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,686,280	S329G	possibly damaging	Het
Prss56	T	C	1: 87,184,915	V144A	probably damaging	Het
Psg28	A	T	7: 18,427,844	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,161,727	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,404,808	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,851,499	T973M	probably benign	Het
Riok2	T	A	17: 17,377,783	L44Q	probably damaging	Het
Rusc1	G	T	3: 89,091,498	Q326K	possibly damaging	Het
Sart3	A	T	5: 113,754,246	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,517,708	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,998,949	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,855,460	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,515,277	V286I	probably benign	Het
Slc39a13	G	T	2: 91,065,634	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364	N322K	probably benign	Het
Stk38	T	C	17: 28,974,646	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,673,450	M244V	probably benign	Het
Tas2r144	C	T	6: 42,215,866	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,898,902	M366K	probably benign	Het
Terb1	T	C	8: 104,495,327	I147V	possibly damaging	Het
Tldc1	C	T	8: 119,762,315	G410S	probably damaging	Het
Tmem5	A	T	10: 122,081,618	L330*	probably null	Het
Tnik	T	C	3: 28,638,419	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,682,196	L995I	possibly damaging	Het
Trim34b	A	G	7: 104,329,587	T14A	possibly damaging	Het
Urb1	T	C	16: 90,791,166	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,159,565	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,703,987	V16E	possibly damaging	Het
Vps11	A	T	9: 44,354,506	V492D	probably damaging	Het
Wdr62	A	C	7: 30,270,444		probably null	Het
Zc3h14	T	A	12: 98,780,149	M539K	probably benign	Het
Zfp871	A	T	17: 32,775,315	H295Q	probably damaging	Het

Other mutations in Fam126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Fam126b	APN	1	58540253	splice site	probably benign
IGL00468:Fam126b	APN	1	58530232	missense	probably benign	0.25
IGL00701:Fam126b	APN	1	58535482	missense	possibly damaging	0.59
IGL00795:Fam126b	APN	1	58552179	missense	probably damaging	1.00
IGL02023:Fam126b	APN	1	58530115	missense	possibly damaging	0.53
IGL02501:Fam126b	APN	1	58540191	missense	probably damaging	1.00
IGL02657:Fam126b	APN	1	58535402	missense	probably damaging	1.00
IGL02970:Fam126b	APN	1	58539617	missense	probably damaging	1.00
IGL03221:Fam126b	APN	1	58540186	missense	probably benign	0.00
IGL03240:Fam126b	APN	1	58529917	missense	probably damaging	1.00
PIT4812001:Fam126b	UTSW	1	58548703	missense	possibly damaging	0.78
R0455:Fam126b	UTSW	1	58534479	splice site	probably benign
R1479:Fam126b	UTSW	1	58552268	nonsense	probably null
R1529:Fam126b	UTSW	1	58539607	missense	probably benign	0.00
R4275:Fam126b	UTSW	1	58529933	missense	probably benign
R5164:Fam126b	UTSW	1	58535438	missense	probably benign	0.13
R6332:Fam126b	UTSW	1	58529875	missense	probably damaging	0.99
R6352:Fam126b	UTSW	1	58557312	missense	probably damaging	1.00
R6549:Fam126b	UTSW	1	58539600	missense	probably benign	0.03
R7034:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7036:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7100:Fam126b	UTSW	1	58534494	missense	possibly damaging	0.94
R7378:Fam126b	UTSW	1	58530034	missense	probably benign	0.00
R7403:Fam126b	UTSW	1	58548702	missense	possibly damaging	0.59
R8015:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59
R8249:Fam126b	UTSW	1	58534637	missense	probably benign	0.10
R8544:Fam126b	UTSW	1	58529822	missense	probably benign	0.09
R8726:Fam126b	UTSW	1	58546126	missense	possibly damaging	0.82
R8829:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8832:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8847:Fam126b	UTSW	1	58556554	missense	probably damaging	1.00
R9046:Fam126b	UTSW	1	58529786	missense	probably damaging	0.99
R9177:Fam126b	UTSW	1	58552202	missense	probably damaging	1.00
R9268:Fam126b	UTSW	1	58552202	missense	probably damaging	1.00
R9472:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- AGCCGGTCTTCTTGTAGACTG -3'
(R):5'- TTAGCAGCCAACCACATGGG -3'

Sequencing Primer
(F):5'- AACCCCAATGCTGGTACT -3'
(R):5'- TCCTCTTCTCAGCGGGGAAG -3'

Posted On

2019-06-26