Mutagenetix > Incidental Mutation

Incidental Mutation 'R6332:Fam126b'

513147

Institutional Source

Beutler Lab

Gene Symbol

Fam126b

Ensembl Gene

ENSMUSG00000038174

Gene Name

family with sequence similarity 126, member B

Synonyms

D1Ertd53e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R6332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58522806-58586323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58529875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 515 (Y515F)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

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

AlphaFold

Q8C729

Predicted Effect

probably benign
Transcript: ENSMUST00000038372
AA Change: Y459F

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: Y459F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097724
AA Change: Y515F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: Y515F

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 benign
Transcript: ENSMUST00000161600
AA Change: Y459F

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: Y459F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187717

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	A	7: 42,446,243	G194C	possibly damaging	Het
Adamtsl1	A	G	4: 86,217,011	K258E	probably damaging	Het
Afdn	A	T	17: 13,810,445	D206V	possibly damaging	Het
Agt	G	T	8: 124,557,833	Q389K	possibly damaging	Het
Ankrd44	A	T	1: 54,762,273	D298E	probably damaging	Het
Anks1	A	G	17: 28,052,735	S897G	probably benign	Het
Apol9b	A	G	15: 77,735,546		probably null	Het
Baz1a	T	C	12: 54,918,554	E705G	probably benign	Het
BC048679	C	T	7: 81,495,218	V126M	probably benign	Het
Cep295	A	G	9: 15,334,914	F749L	possibly damaging	Het
Cntrl	T	A	2: 35,128,024	I482K	possibly damaging	Het
Col6a3	A	G	1: 90,822,233	F293S	probably damaging	Het
Dnah12	T	G	14: 26,717,974	M527R	probably damaging	Het
Dnhd1	G	A	7: 105,694,066	R1539H	probably benign	Het
Ece1	A	G	4: 137,958,008	Y603C	probably damaging	Het
Eea1	G	A	10: 96,041,473	A1350T	possibly damaging	Het
Exoc3l4	A	T	12: 111,427,968	K507N	possibly damaging	Het
Fam35a	A	G	14: 34,268,172	V259A	probably benign	Het
Flt3l	A	T	7: 45,133,667		probably null	Het
Fn1	T	C	1: 71,628,071	Q834R	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Ifih1	T	C	2: 62,639,483	N157D	possibly damaging	Het
Itga2	A	C	13: 114,843,473	M1064R	probably benign	Het
Itgae	A	G	11: 73,111,402		probably null	Het
Krtap10-4	T	C	10: 77,827,049		probably benign	Het
Lamp3	A	G	16: 19,699,681	C269R	probably damaging	Het
Lrp5	T	C	19: 3,659,355	D125G	probably damaging	Het
Matn2	A	C	15: 34,423,755	E586D	probably benign	Het
Mef2b	T	A	8: 70,164,139		probably null	Het
Mrps22	A	G	9: 98,601,471		probably null	Het
Mtmr2	T	C	9: 13,800,029	F445L	probably damaging	Het
Nxph4	A	G	10: 127,526,368	V218A	probably damaging	Het
Olfr1308	C	T	2: 111,960,746	G109D	probably damaging	Het
Olfr382	A	G	11: 73,517,175	V8A	probably benign	Het
Olfr639	A	G	7: 104,011,773	S310P	probably benign	Het
Pdpk1	A	T	17: 24,106,922	V100D	probably damaging	Het
Phldb2	A	C	16: 45,774,246	S899A	probably benign	Het
Pnpla3	G	A	15: 84,172,782		probably null	Het
Rasal2	A	G	1: 157,299,187	Y94H	probably damaging	Het
Rlf	A	T	4: 121,148,822	I987N	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rprd2	A	G	3: 95,780,441	Y300H	probably damaging	Het
Setbp1	G	A	18: 78,783,369	S1343L	probably benign	Het
Sfswap	A	G	5: 129,571,041	K938E	possibly damaging	Het
Slc3a1	A	C	17: 85,028,432	M1L	probably damaging	Het
Slco5a1	C	T	1: 12,921,185	V427I	probably benign	Het
Ssbp2	A	T	13: 91,690,908	M300L	probably benign	Het
Ssc5d	A	G	7: 4,937,522	D878G	probably damaging	Het
Stk19	A	G	17: 34,824,598	L212P	probably damaging	Het
Stk39	T	C	2: 68,410,043	M115V	possibly damaging	Het
Syt17	A	C	7: 118,434,243	S181A	probably benign	Het
Taar7b	A	T	10: 23,999,951	N5Y	probably benign	Het
Tmc4	A	G	7: 3,677,422		probably null	Het
Tmem248	T	A	5: 130,229,469	M1K	probably null	Het
Tmem82	T	A	4: 141,616,410	Q183L	probably damaging	Het
Tpd52l1	T	C	10: 31,338,207	E142G	probably damaging	Het
Ttll2	A	T	17: 7,351,768	H253Q	probably damaging	Het
Ttn	T	C	2: 76,857,464		probably benign	Het
Ubd	A	G	17: 37,195,501	K93E	probably benign	Het
Ugt2b35	T	A	5: 87,001,556	F222Y	probably damaging	Het
Vmn2r10	G	T	5: 109,003,462	N95K	probably damaging	Het
Vwa8	T	C	14: 79,197,464	V1775A	probably benign	Het
Zdbf2	A	G	1: 63,307,822	K1787E	possibly damaging	Het
Zfp26	A	T	9: 20,437,286	F661I	probably damaging	Het
Zfp735	A	T	11: 73,711,678	K483*	probably null	Het
Zfp946	A	G	17: 22,454,538	E91G	probably damaging	Het
Zic5	C	A	14: 122,459,749	D485Y	unknown	Het
Zmynd8	A	T	2: 165,838,852	D236E	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
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
R7237:Fam126b	UTSW	1	58529948	nonsense	probably null
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'- GCATCAGAACTACACCTGGG -3'
(R):5'- GCCCTCGAGATTCAGTAGTTG -3'

Sequencing Primer
(F):5'- ACACCTGGGATATTAGCTGC -3'
(R):5'- CCCTCGAGATTCAGTAGTTGGAAAG -3'

Posted On

2018-04-27