Mutagenetix > Incidental Mutation

Incidental Mutation 'R8201:Tchh'

635661

Institutional Source

Beutler Lab

Gene Symbol

Tchh

Ensembl Gene

ENSMUSG00000052415

Gene Name

trichohyalin

Synonyms

AHF, Thh

MMRRC Submission

067624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8201 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

93349637-93356384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93350781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 74 (F74L)

Ref Sequence

ENSEMBL: ENSMUSP00000069525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064257]

AlphaFold

A0A0B4J1F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064257
AA Change: F74L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: F74L

Domain	Start	End	E-Value	Type
Pfam:S_100	4	46	3.5e-15	PFAM
Blast:EFh	53	81	4e-9	BLAST
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	137	370	N/A	INTRINSIC
internal_repeat_2	374	384	2.35e-6	PROSPERO
internal_repeat_1	382	400	4.53e-15	PROSPERO
low complexity region	403	431	N/A	INTRINSIC
internal_repeat_2	432	442	2.35e-6	PROSPERO
low complexity region	443	469	N/A	INTRINSIC
low complexity region	480	494	N/A	INTRINSIC
low complexity region	497	511	N/A	INTRINSIC
coiled coil region	516	625	N/A	INTRINSIC
internal_repeat_1	627	645	4.53e-15	PROSPERO
coiled coil region	661	700	N/A	INTRINSIC
low complexity region	717	734	N/A	INTRINSIC
coiled coil region	738	821	N/A	INTRINSIC
low complexity region	827	844	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	867	905	N/A	INTRINSIC
coiled coil region	927	1049	N/A	INTRINSIC
coiled coil region	1073	1263	N/A	INTRINSIC
coiled coil region	1295	1570	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,195,046 (GRCm39)	E543G	probably benign	Het
2210408I21Rik	T	A	13: 77,341,278 (GRCm39)	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,466,458 (GRCm39)	N609S	probably benign	Het
Atp10a	G	T	7: 58,469,424 (GRCm39)	G1092*	probably null	Het
Ccdc150	A	G	1: 54,368,646 (GRCm39)	N618S	probably benign	Het
Cct4	T	A	11: 22,949,115 (GRCm39)	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,083,564 (GRCm39)	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,475,960 (GRCm39)	A611V	probably benign	Het
Dusp10	C	A	1: 183,769,202 (GRCm39)	A56E	possibly damaging	Het
Entrep3	T	C	3: 89,093,115 (GRCm39)	V291A	probably damaging	Het
Fat3	A	C	9: 15,908,773 (GRCm39)	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 44,744,634 (GRCm39)	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,681,455 (GRCm39)		probably benign	Het
Fubp1	T	A	3: 151,927,823 (GRCm39)	I424N	probably damaging	Het
Gm5114	T	A	7: 39,060,373 (GRCm39)	T159S	probably damaging	Het
Gm7168	T	C	17: 14,170,042 (GRCm39)	C470R	probably benign	Het
Hebp1	A	G	6: 135,114,906 (GRCm39)	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,578,429 (GRCm39)	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,456,093 (GRCm39)	N771S	probably damaging	Het
Ndufaf4	A	G	4: 24,898,197 (GRCm39)	N11D	possibly damaging	Het
Nkiras1	T	C	14: 18,276,908 (GRCm38)		probably benign	Het
Noct	T	C	3: 51,155,444 (GRCm39)	S135P	probably benign	Het
Or1e23	T	A	11: 73,407,899 (GRCm39)	N42I	probably damaging	Het
Or2t48	A	T	11: 58,419,865 (GRCm39)	*316R	noncoding transcript	Het
Or2w3b	A	C	11: 58,623,940 (GRCm39)	F17C	probably damaging	Het
Or7e177	G	T	9: 20,212,317 (GRCm39)	G271C	probably damaging	Het
Or7e178	T	C	9: 20,225,908 (GRCm39)	M103V	probably benign	Het
Pcdhac1	A	T	18: 37,223,892 (GRCm39)	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,651,518 (GRCm39)		probably benign	Het
Pdlim1	A	T	19: 40,218,958 (GRCm39)	D224E	probably benign	Het
Plpp3	G	T	4: 105,076,555 (GRCm39)	G223W	probably damaging	Het
Rcan3	A	G	4: 135,147,684 (GRCm39)	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,108,312 (GRCm39)	Y191D	probably damaging	Het
Supt16	A	G	14: 52,408,447 (GRCm39)	F833L	probably damaging	Het
Tgfbr3	T	C	5: 107,278,431 (GRCm39)	D725G	probably benign	Het
Tmem14c	C	T	13: 41,171,186 (GRCm39)	P10S	probably benign	Het
Ubb	G	A	11: 62,443,053 (GRCm39)	A28T	probably benign	Het
Vars2	A	T	17: 35,969,202 (GRCm39)	V833E	probably benign	Het
Zfyve9	T	C	4: 108,507,474 (GRCm39)	D528G	possibly damaging	Het

Other mutations in Tchh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tchh	APN	3	93,352,606 (GRCm39)	missense	unknown
IGL00338:Tchh	APN	3	93,354,951 (GRCm39)	missense	unknown
IGL00541:Tchh	APN	3	93,353,557 (GRCm39)	missense	unknown
IGL02510:Tchh	APN	3	93,351,385 (GRCm39)	missense	unknown
IGL02622:Tchh	APN	3	93,350,719 (GRCm39)	missense	probably damaging	1.00
IGL03164:Tchh	APN	3	93,352,699 (GRCm39)	missense	unknown
IGL03331:Tchh	APN	3	93,350,725 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Tchh	UTSW	3	93,353,187 (GRCm39)	missense	unknown
R0334:Tchh	UTSW	3	93,352,923 (GRCm39)	missense	unknown
R0603:Tchh	UTSW	3	93,351,088 (GRCm39)	missense	possibly damaging	0.91
R1186:Tchh	UTSW	3	93,355,353 (GRCm39)	missense	unknown
R1241:Tchh	UTSW	3	93,352,279 (GRCm39)	missense	unknown
R1610:Tchh	UTSW	3	93,352,146 (GRCm39)	missense	unknown
R1768:Tchh	UTSW	3	93,350,882 (GRCm39)	missense	possibly damaging	0.68
R1843:Tchh	UTSW	3	93,354,087 (GRCm39)	missense	unknown
R1866:Tchh	UTSW	3	93,355,067 (GRCm39)	missense	unknown
R1978:Tchh	UTSW	3	93,354,106 (GRCm39)	missense	unknown
R2008:Tchh	UTSW	3	93,353,281 (GRCm39)	missense	unknown
R2011:Tchh	UTSW	3	93,354,268 (GRCm39)	missense	unknown
R2087:Tchh	UTSW	3	93,351,225 (GRCm39)	missense	unknown
R2177:Tchh	UTSW	3	93,351,439 (GRCm39)	missense	unknown
R2292:Tchh	UTSW	3	93,349,689 (GRCm39)	missense	probably damaging	1.00
R2418:Tchh	UTSW	3	93,352,936 (GRCm39)	missense	unknown
R2877:Tchh	UTSW	3	93,351,535 (GRCm39)	missense	unknown
R2995:Tchh	UTSW	3	93,355,057 (GRCm39)	small deletion	probably benign
R2997:Tchh	UTSW	3	93,355,057 (GRCm39)	small deletion	probably benign
R3439:Tchh	UTSW	3	93,354,700 (GRCm39)	missense	unknown
R3440:Tchh	UTSW	3	93,352,414 (GRCm39)	missense	unknown
R3441:Tchh	UTSW	3	93,352,414 (GRCm39)	missense	unknown
R4063:Tchh	UTSW	3	93,354,298 (GRCm39)	missense	unknown
R4550:Tchh	UTSW	3	93,352,617 (GRCm39)	missense	unknown
R4720:Tchh	UTSW	3	93,355,189 (GRCm39)	missense	unknown
R4836:Tchh	UTSW	3	93,354,895 (GRCm39)	missense	unknown
R4836:Tchh	UTSW	3	93,352,455 (GRCm39)	missense	unknown
R4880:Tchh	UTSW	3	93,351,130 (GRCm39)	missense	possibly damaging	0.85
R4895:Tchh	UTSW	3	93,352,993 (GRCm39)	missense	unknown
R5188:Tchh	UTSW	3	93,353,986 (GRCm39)	missense	unknown
R5404:Tchh	UTSW	3	93,354,982 (GRCm39)	missense	unknown
R5435:Tchh	UTSW	3	93,350,979 (GRCm39)	missense	possibly damaging	0.53
R5578:Tchh	UTSW	3	93,351,618 (GRCm39)	nonsense	probably null
R5678:Tchh	UTSW	3	93,352,933 (GRCm39)	missense	unknown
R5697:Tchh	UTSW	3	93,352,350 (GRCm39)	nonsense	probably null
R5768:Tchh	UTSW	3	93,353,488 (GRCm39)	missense	unknown
R5809:Tchh	UTSW	3	93,352,880 (GRCm39)	missense	unknown
R5934:Tchh	UTSW	3	93,351,419 (GRCm39)	missense	unknown
R5945:Tchh	UTSW	3	93,352,644 (GRCm39)	missense	unknown
R6313:Tchh	UTSW	3	93,355,158 (GRCm39)	missense	unknown
R6329:Tchh	UTSW	3	93,353,752 (GRCm39)	missense	unknown
R6397:Tchh	UTSW	3	93,353,173 (GRCm39)	missense	unknown
R6818:Tchh	UTSW	3	93,350,718 (GRCm39)	missense	probably damaging	1.00
R6997:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7174:Tchh	UTSW	3	93,353,478 (GRCm39)	missense	unknown
R7268:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7270:Tchh	UTSW	3	93,351,837 (GRCm39)	missense	unknown
R7449:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R7745:Tchh	UTSW	3	93,352,084 (GRCm39)	missense	unknown
R8375:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8438:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8676:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8801:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R8893:Tchh	UTSW	3	93,354,957 (GRCm39)	nonsense	probably null
R9104:Tchh	UTSW	3	93,354,610 (GRCm39)	missense	unknown
R9318:Tchh	UTSW	3	93,354,051 (GRCm39)	missense	unknown
R9328:Tchh	UTSW	3	93,351,570 (GRCm39)	missense	unknown
R9386:Tchh	UTSW	3	93,354,346 (GRCm39)	missense	unknown
R9499:Tchh	UTSW	3	93,354,015 (GRCm39)	small deletion	probably benign
R9553:Tchh	UTSW	3	93,355,125 (GRCm39)	nonsense	probably null
R9644:Tchh	UTSW	3	93,354,666 (GRCm39)	missense	unknown
Z1088:Tchh	UTSW	3	93,352,989 (GRCm39)	nonsense	probably null
Z1176:Tchh	UTSW	3	93,354,166 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTAATCGCTCCAAATAGTCCC -3'
(R):5'- AGGCGTTCCTCCAGTTCTTG -3'

Sequencing Primer
(F):5'- GCTCCAAATAGTCCCCTCCC -3'
(R):5'- GCAGTTCTCGCCTTTGCAG -3'

Posted On

2020-07-13